Gene: C8orf37 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 GeneticVariation disease BEFREE The same mutation has been described in unrelated patients with non-syndromic cone-rod dystrophy and other C8orf37 changes were found in individuals with retinitis pigmentosa. 26854863 2016
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 GeneticVariation disease BEFREE Mutations in C8ORF37 were previously associated with severe autosomal recessive retinal dystrophies (retinitis pigmentosa RP64 and cone-rod dystrophy CORD16) but not BBS. 27008867 2016
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 GeneticVariation disease BEFREE Recessive C8orf37 mutations have been identified in early to adolescent-onset arRP and arCRD with macular involvement. 25113443 2016
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 GeneticVariation disease BEFREE In this report, we describe C8orf37 mutations that cause retinal dystrophy in two families of Pakistani origin, contributing further data on the phenotype and the spectrum of mutations in this form of retinitis pigmentosa. 25802487 2015
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 GeneticVariation disease BEFREE Eight patients--four diagnosed with retinitis pigmentosa (RP) and four with cone-rod dystrophy (CRD), carrying causal C8orf37 mutations--were clinically evaluated, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, kinetic perimetry, electroretinography (ERG), spectral-domain optical coherence tomography (SD-OCT), autofluorescence (AF) imaging, and fundus photography. 23788369 2013
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 GermlineCausalMutation disease ORPHANET Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. 22177090 2012
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 CausalMutation disease CLINVAR
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 Biomarker disease HPO
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 Biomarker disease CTD_human
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 Biomarker disease MGD
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 GeneticVariation disease CLINVAR