Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease MGD Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration. 25616964 2015
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 GeneticVariation disease UNIPROT Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. 21412943 2011
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 GeneticVariation disease UNIPROT Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. 20398884 2010
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 GeneticVariation disease UNIPROT Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 20398886 2010
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease CTD_human
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 CausalMutation disease CLINVAR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 CausalMutation disease CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 Biomarker disease BEFREE The molecular findings for RHO and C2orf71 confirmed the initial diagnosis of adRP and arRP, respectively, while patients with the two ABCA4 mutations, both previously associated with Stargardt disease, presented symptoms of RP with early macular involvement. 25544989 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 CausalMutation disease CLINVAR Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. 21412943 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease BEFREE Further analysis will determine the spectrum of retinal disease caused by mutations in C2ORF71 and distinguish true pathogenic alleles from the high background of polymorphism elucidating the role of this rare cause of RP in the visual process. 20811058 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease BEFREE Two mutations were found in C2ORF71 in human RP patients: A nonsense mutation (p.W253X) in the first exon is likely to be a null allele; the second, a missense mutation (p.I201F) within a highly conserved region of the protein, leads to proteosomal degradation. 20398886 2010
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 Biomarker disease BEFREE A missense variant in one of the genes residing in this interval, C2ORF71, has recently been reported to be associated with RP. 20398884 2010
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease CLINVAR
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: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker group MGD Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration. 25616964 2015
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.110 GeneticVariation disease BEFREE Mutations in C2orf71 are causative for autosomal recessive retinitis pigmentosa and occasionally cone-rod dystrophy. 29946172 2018
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 GeneticVariation disease BEFREE Patients who were double homozygotes had SNHL accompanied by early-onset and severe RP, while patients who were homozygous for the CEP250 mutation and carried a single mutant C2orf71 allele had SNHL with mild retinal degeneration. 24780881 2014