Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 Biomarker disease BEFREE CRX may be mutated in three forms of human blindness; Leber congenital amaurosis (LCA), cone-rod degeneration (CRD) and retinitis pigmentosa (RP). 29568065 2018
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE Furthermore, we identified numerous mutations in autosomal dominant (PRPF31, PRPH2, CRX) and X-linked (RPGR) RP genes in patients with sporadic RP. 30543658 2018
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE Mutations in the human CRX gene are associated with dominant inherited retinopathies Retinitis Pigmentosa (RP), Cone-Rod Dystrophy (CoRD), and Leber Congenital Amaurosis (LCA), of varying severity. 24888636 2014
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE Mutations in human CRX are associated with the dominant retinopathies Retinitis Pigmentosa (RP), Cone-Rod Dystrophy (CoRD) and Leber Congenital Amaurosis (LCA), with variable severity. 24516401 2014
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE Homozygous and compound heterozygous null mutations in the CRX-regulated FAM161A gene of unknown function were identified as a cause for autosomal recessive RP (RP28) in patients from India, Germany, Israel, the Palestinian territories, and the USA. 24664697 2014
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE Mutations in the cone-rod homeobox gene (CRX) are associated with cone-rod dystrophy (CORD), Leber congenital amaurosis (LCA), and, in rare cases, retinitis pigmentosa (RP). 22960069 2012
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE To address this problem in the context of a genetically heterogeneous disease, retinitis pigmentosa (RP), we devised a candidate-gene prioritization strategy called cis-regulatory mapping that utilizes ChIP-seq data for the photoreceptor transcription factor CRX to rank candidate genes. 21835304 2011
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE The four major causative genes involved in the pathogenesis of CRDs are ABCA4 (which causes Stargardt disease and also 30 to 60% of autosomal recessive CRDs), CRX and GUCY2D (which are responsible for many reported cases of autosomal dominant CRDs), and RPGR (which causes about 2/3 of X-linked RP and also an undetermined percentage of X-linked CRDs). 17270046 2007
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 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
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE We summarize 18 mutations in the human CRX gene that have been associated with Leber congenital amaurosis (congenital retinal blindness), cone-rod degeneration, or retinitis pigmentosa. 11748842 2001
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease UNIPROT Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 11139241 2001
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod dystrophy, 13 with cone dystrophy, and 36 with recessive or isolate RP for changes in the CRX sequence, we found two patients with Leber congenital amaurosis who carried heterozygously one of two novel frameshift mutations. 11748859 2001
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease BEFREE Mutations in human CRX are associated with the retinal diseases, cone-rod dystrophy-2 (adCRD2; refs 3, 4, 5), retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), which all lead to loss of vision. 10581037 1999
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease UNIPROT A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 9792858 1998
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease UNIPROT Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. 9427255 1997
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 Biomarker disease CTD_human
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 GeneticVariation disease CLINVAR
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.800 CausalMutation disease CLINVAR