rs104893679, ARL6

N. diseases: 2
Disease: Bardet-Biedl syndrome 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bardet-Biedl syndrome 3
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
0.800 GeneticVariation UNIPROT Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. 23219996 2013
Bardet-Biedl syndrome 3
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
0.800 GeneticVariation UNIPROT Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 15314642 2004
Bardet-Biedl syndrome 3
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
0.800 GeneticVariation UNIPROT Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 15258860 2004
Bardet-Biedl syndrome 3
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
0.800 CausalMutation CLINVAR