rs768933093, BBS10

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 25982971 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Bardet-Biedl syndrome. 22713813 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Bardet-Biedl syndrome. 22713813 2013
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627 2012
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939 2012
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939 2012
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674 2011
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035 2011
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674 2011
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR BBS10 mutations are common in 'Meckel'-type cystic kidneys. 20805367 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR BBS10 mutations are common in 'Meckel'-type cystic kidneys. 20805367 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638 2010
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 20472660 2010