Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease BEFREE Mutations in the retinal inosine monophosphate dehydrogenase1 (IMPDH1) gene is believed to be one cause of retinitis pigmentosa (RP). 31838626 2020
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease BEFREE We successfully identified causative mutations in patients from the Chinese families with RDS: the known mutation IMPDH1 c.942_944delGAA in a family with retinitis pigmentosa, the novel mutation ABCA4 c.1924T>A in a family with Stargardt disease, and the novel mutation NMNAT1 c.272A>G and known mutation NMNAT1 c.196C>T in a family with Leber congenital amaurosis. 24791140 2014
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 Biomarker disease BEFREE Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa. 22183375 2012
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease BEFREE Molecular recruitment as a basis for negative dominant inheritance? propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa. 21791244 2011
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease BEFREE IMPDH1 mutations account for 2% of all adRP cases and are a rare cause of Leiber Congenital Amaurosis. 20238057 2010
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease BEFREE We show here, in a murine model of autosomal dominant RP (RP10) involving expression of an Arg224Pro mutation within the IMPDH1 gene, that treatment with the low-molecular-weight drug, 17-allylamino-17-demethoxygeldanamycin (17-AAG), an ansamycin antibiotic that binds to heat shock protein Hsp90, activating a heat shock response in mammalian cells, protects photoreceptors against degeneration induced by aggregating mutant IMPDH1 protein, systemic delivery of this low-molecular-weight drug to the retina being facilitated by RNA interference-mediated modulation of the inner-blood retina barrier. 20817636 2010
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease LHGDN We screened RHO, PRPF31, RP1, and IMPDH1 and identified causative mutations in 4% of isolated and 2% of adRP patients from India. 18552984 2008
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease BEFREE We screened RHO, PRPF31, RP1, and IMPDH1 and identified causative mutations in 4% of isolated and 2% of adRP patients from India. 18552984 2008
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 Biomarker disease CTD_human Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. 16384941 2006
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease BEFREE Aiming towards an understanding of the molecular background of retinitis pigmentosa, this paper describes the phenotype of a Swedish family with a mutation in IMPDH1. 16272056 2005
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease LHGDN Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa. 16038673 2005
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease BEFREE Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. 15851576 2005
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease LHGDN A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. 15465556 2004
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease LHGDN Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. 11875049 2002
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 Biomarker disease BEFREE Since many of the genes known to cause retinitis pigmentosa are under CRX control in photoreceptors, IMPDH1 became a high-priority candidate for mutation screening. 11875050 2002
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease LHGDN Since many of the genes known to cause retinitis pigmentosa are under CRX control in photoreceptors, IMPDH1 became a high-priority candidate for mutation screening. 11875050 2002
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 Biomarker disease CTD_human Since many of the genes known to cause retinitis pigmentosa are under CRX control in photoreceptors, IMPDH1 became a high-priority candidate for mutation screening. 11875050 2002
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.700 GeneticVariation disease CLINVAR