CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Disease: LEBER CONGENITAL AMAUROSIS 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 Biomarker disease MGD Mechanistically distinct mouse models for CRX-associated retinopathy. 24516401 2014
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 Biomarker disease MGD OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. 24382353 2014
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 GeneticVariation disease UNIPROT Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 21602930 2011
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 GeneticVariation disease UNIPROT Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. 20513135 2010
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 Biomarker disease MGD Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice. 15676071 2005
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 Biomarker disease MGD Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis. 14730587 2004
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 GeneticVariation disease UNIPROT The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. 10887186 2000
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 GeneticVariation disease UNIPROT Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. 9931337 1999
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 Biomarker disease MGD Retinopathy and attenuated circadian entrainment in Crx-deficient mice. 10581037 1999
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 GeneticVariation disease UNIPROT A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 9792858 1998
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 GeneticVariation disease CLINVAR
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 CausalMutation disease CLINVAR
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.900 Biomarker disease CTD_human