COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912952
rs121912952
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957 2015
dbSNP: rs864309523
rs864309523
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957 2015
dbSNP: rs2254287
rs2254287
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASCAT Newly identified loci that influence lipid concentrations and risk of coronary artery disease. 18193043 2008
dbSNP: rs2254287
rs2254287
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASDB Newly identified loci that influence lipid concentrations and risk of coronary artery disease. 18193043 2008
dbSNP: rs121912952
rs121912952
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917 2005
dbSNP: rs864309523
rs864309523
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917 2005
dbSNP: rs121912945
rs121912945
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C4520892
Disease:
Otospondylomegaepiphyseal dysplasia 		0.800 GeneticVariation UNIPROT Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. 10677296 2000
dbSNP: rs121912947
rs121912947
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1866095
Disease:
Deafness, Autosomal Dominant 13 		0.800 GeneticVariation UNIPROT Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 10581026 1999
dbSNP: rs121912948
rs121912948
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1866095
Disease:
Deafness, Autosomal Dominant 13 		0.800 GeneticVariation UNIPROT Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 10581026 1999
dbSNP: rs121912945
rs121912945
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C4520892
Disease:
Otospondylomegaepiphyseal dysplasia 		0.800 GeneticVariation UNIPROT Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 7859284 1995
dbSNP: rs121912945
rs121912945
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C4520892
Disease:
Otospondylomegaepiphyseal dysplasia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912947
rs121912947
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1866095
Disease:
Deafness, Autosomal Dominant 13 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912948
rs121912948
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1866095
Disease:
Deafness, Autosomal Dominant 13 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912952
rs121912952
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		T 0.800 CausalMutation CLINVAR
dbSNP: rs606231410
rs606231410
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT
dbSNP: rs606231410
rs606231410
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		A 0.800 CausalMutation CLINVAR
dbSNP: rs864309523
rs864309523
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		T 0.800 CausalMutation CLINVAR
dbSNP: rs2229790
rs2229790
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1050673
rs1050673
Entrez Id: 1302;6257
Gene Symbol: COL11A2;RXRB
COL11A2;RXRB
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs144092339
rs144092339
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs606231410
rs606231410
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C3711374
Disease:
Nonsyndromic Deafness 		A 0.700 CausalMutation CLINVAR Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957 2015
dbSNP: rs2855430
rs2855430
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0019829
Disease:
Hodgkin Disease 		A 0.700 GeneticVariation GWASDB Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. 24149102 2013
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. 22246659 2012
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. 22246659 2012
dbSNP: rs2254287
rs2254287
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0010068
Disease:
Coronary heart disease 		0.700 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011