rs549625604, BBS10

N. diseases: 13
Disease: BARDET-BIEDL SYNDROME 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
0.700 CausalMutation CLINVAR Bardet-Biedl Syndrome. 27385962 2016
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.700 CausalMutation CLINVAR Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. 24400638 2015
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.700 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
0.700 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
0.700 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
0.700 CausalMutation CLINVAR BBS10 mutations are common in 'Meckel'-type cystic kidneys. 20805367 2010
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
0.700 CausalMutation CLINVAR BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908 2006