Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.740 GermlineCausalMutation ORPHANET Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. 18327255

2008

Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 GermlineCausalMutation ORPHANET Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome. 23219996

2013

Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 GermlineCausalMutation ORPHANET Such a large deletion in BBS10 has not been reported previously in any population and is likely to be contributing to the phenotype of Bardet-Biedl Syndrome in this family. 23403234

2013

Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.640 GermlineCausalMutation ORPHANET This study shows that absence of LZTFL1 leads to a BBS phenotype with enhanced developmental abnormalities associated with cellular Shh dysfunction.LZTFL1 is a novel BBS gene (BBS17). 22510444

2012

Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.640 GermlineCausalMutation ORPHANET Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237

2010

Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.610 GermlineCausalMutation ORPHANET These findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS. 24026985

2014

Entrez Id: 11020
Gene Symbol: IFT27
IFT27
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.420 GermlineCausalMutation ORPHANET IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. 24488770

2014

Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.330 GermlineCausalMutation ORPHANET Using whole exome sequencing in three families, we identified mutations in Intraflagellar Transport 172 Homolog [IFT172 (Chlamydomonas)] that underlie an isolated retinal degeneration and Bardet-Biedl syndrome. 25168386

2015

Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.320 GermlineCausalMutation ORPHANET Knockdown of c8orf37 resulted in impaired visual behavior and BBS-related phenotypes, specifically, defects in the formation of Kupffer's vesicle and delays in retrograde transport. 27008867

2016

Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.320 GermlineCausalMutation ORPHANET These results suggest that NPHP1 mutations are probably rare primary causes of BBS that contribute to the mutational burden of the disorder. 24746959

2014