Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.600 GeneticVariation disease UNIPROT Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions. 28644393 2017
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.600 GeneticVariation disease UNIPROT Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 25085631 2014
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.600 GeneticVariation disease UNIPROT Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 20673862 2010
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.600 CausalMutation disease CLINVAR
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.600 Biomarker disease CTD_human
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.600 GeneticVariation disease CLINVAR
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.600 CausalMutation disease CLINVAR
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.500 GermlineCausalMutation disease ORPHANET Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 25085631 2014
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.500 Biomarker disease CTD_human
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 Biomarker disease BEFREE IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. 24876279 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 GeneticVariation disease BEFREE Most patients with IMPG2 mutations showed an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. 20673862 2010
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 GeneticVariation disease CLINVAR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 CausalMutation disease CLINVAR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.310 GeneticVariation disease BEFREE Frequency, inheritance, and clinical pattern of vitelliform dystrophy associated with IMPG1 and IMPG2 mutations were characterized. 25085631 2014
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.310 Biomarker disease CTD_human
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: C2745945
Disease: Juvenile-Onset Vitelliform Macular Dystrophy
Juvenile-Onset Vitelliform Macular Dystrophy 		0.300 Biomarker disease CTD_human
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.110 Biomarker disease BEFREE Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders. 11726612 2001