Disease: RETINITIS PIGMENTOSA 76 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 CausalMutation disease CLINVAR Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 28688748 2017
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease UNIPROT Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. 27391550 2016
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 Biomarker disease GENOMICS_ENGLAND Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. 27421908 2016
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease UNIPROT Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 26908613 2016
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 23326386 2013
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 CausalMutation disease CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691 2012
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 CausalMutation disease CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514 2012
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR Novel retinal findings in an infant with muscle-eye-brain disease. 25390965 2012
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514 2012
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691 2012
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 21361872 2011
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 CausalMutation disease CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310 2009
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676 2008
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 17906881 2007
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669 2006
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 CausalMutation disease CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003 2004
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 GeneticVariation disease CLINVAR POMGnT1 gene alterations in a family with neurological abnormalities. 15236414 2004
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 CausalMutation disease CLINVAR Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 11709191 2001
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76 		0.700 Biomarker disease CTD_human