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 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 GeneticVariation UNIPROT A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. 28808579 2017
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 25982971 2015
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. 24746959 2014
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 GeneticVariation UNIPROT Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. 23219996 2013
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 21044901 2011
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674 2011
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035 2011
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 21517826 2011
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 GeneticVariation UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 GeneticVariation UNIPROT BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638 2010
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 GeneticVariation UNIPROT Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 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
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638 2010
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 GeneticVariation UNIPROT BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908 2006
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 GeneticVariation UNIPROT Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. 16823392 2006
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.800 CausalMutation CLINVAR BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908 2006
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