CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748436
rs61748436
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.710 GeneticVariation UNIPROT Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 11139241 2001
dbSNP: rs61748436
rs61748436
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.710 GeneticVariation BEFREE We also found a previously reported missense mutation, Arg41Gln, heterozygously in a 47-year-old patient with a form of RP. 11748859 2001
dbSNP: rs61748436
rs61748436
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		0.710 GeneticVariation BEFREE The Arg41Gln was associated with a late-onset, slowly progressing mild form of cone-rod dystrophy with cone loss but preserved rod and cone sensitivity until later in life. 10916183 2000
dbSNP: rs61748436
rs61748436
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.710 GeneticVariation UNIPROT A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 9792858 1998
dbSNP: rs61748436
rs61748436
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.710 GeneticVariation UNIPROT Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. 9427255 1997
dbSNP: rs61748436
rs61748436
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		A 0.710 CausalMutation CLINVAR
dbSNP: rs10405809
rs10405809
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs10405809
rs10405809
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs869312175
rs869312175
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		G 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
dbSNP: rs17272610
rs17272610
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0441683
Disease:
Hormone measurement 		0.700 GeneticVariation GWASDB Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. 21533175 2011
dbSNP: rs8100396
rs8100396
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0441683
Disease:
Hormone measurement 		0.700 GeneticVariation GWASDB Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. 21533175 2011
dbSNP: rs750727986
rs750727986
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.700 GeneticVariation UNIPROT Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 11139241 2001
dbSNP: rs750727986
rs750727986
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.700 GeneticVariation UNIPROT A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 9792858 1998
dbSNP: rs750727986
rs750727986
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.700 GeneticVariation UNIPROT Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. 9427255 1997
dbSNP: rs1165723137
rs1165723137
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT
dbSNP: rs1555801963
rs1555801963
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0730292
Disease:
Macular dystrophy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555801989
rs1555801989
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1568626209
rs1568626209
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1568626289
rs1568626289
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C3151192
Disease:
LEBER CONGENITAL AMAUROSIS 7 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs281865515
rs281865515
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C3151192
Disease:
LEBER CONGENITAL AMAUROSIS 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs281865516
rs281865516
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs527236062
rs527236062
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR
dbSNP: rs527236063
rs527236063
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs61748449
rs61748449
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		C 0.700 CausalMutation CLINVAR
dbSNP: rs771450991
rs771450991
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR