Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		0.010 GeneticVariation disease BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		0.010 GeneticVariation disease BEFREE These results represent the first report of an association between IMPDH1 gene polymorphisms and the risk of aGVHD in allo-HSCT. 21745452 2012
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease 		0.010 GeneticVariation disease BEFREE Recipient IMPDH1 rs2278293 genotype was associated with a lower incidence of chronic GVHD (hazard ratio, .72; P = .008) in nonmyeloablative HCT recipients. 29656138 2018
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.010 GeneticVariation disease BEFREE Linkage to the UCLA-RP09 disease gene was excluded for all eight candidate genes analyzed, including rhodopsin (RP4) and peripherin/RDS (RP7), for the four adRP loci RP1, RP9, RP10 and RP11, as well as for 17 phenotypic markers. 8571961 1996
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.010 GeneticVariation disease BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		0.720 Biomarker disease BEFREE We show that AAV-mediated co-expression in the murine retina of a mutant human IMPDH1 gene together with short hairpin RNAs (shRNA) validated in vitro and in vivo, targeting both human and mouse IMPDH1, substantially suppresses the negative pathological effects of mutant IMPDH1, at a point where, in the absence of shRNA, expression of mutant protein in the RP10 model essentially ablates all photoreceptors in transfected areas of the retina. 18385099 2008
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		0.720 Biomarker disease CTD_human
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 Biomarker disease BEFREE Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa. 22183375 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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
CUI: C1840284
Disease: LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 11 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1840284
Disease: LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 11 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1840284
Disease: LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 11 		0.700 Biomarker disease CTD_human
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.630 Biomarker disease CTD_human The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA). 16384941 2006
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		0.300 Biomarker disease CTD_human Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. 16384941 2006
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND