Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 GeneticVariation disease UNIPROT Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. 23219996 2013
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 Biomarker disease GENOMICS_ENGLAND Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. 19858128 2010
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 GeneticVariation disease BEFREE We have identified a novel transcript of a known BBS gene, BBS3 (ARL6), which includes an additional exon. 20333246 2010
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 Biomarker disease GENOMICS_ENGLAND The embryonic expression patterns and the knockdown phenotypes of zebrafish ADP-ribosylation factor-like 6 interacting protein gene. 19097054 2009
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 Biomarker disease GENOMICS_ENGLAND One of these genes, ADP-ribosylation factor-like 6 (ARL6), contains a homozygous stop mutation that segregates completely with the disease in the Bedouin kindred originally used to map the BBS3 locus, identifying this gene as the BBS3 gene. 15258860 2004
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 GeneticVariation disease UNIPROT Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 15314642 2004
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 GeneticVariation disease BEFREE One of these genes, ADP-ribosylation factor-like 6 (ARL6), contains a homozygous stop mutation that segregates completely with the disease in the Bedouin kindred originally used to map the BBS3 locus, identifying this gene as the BBS3 gene. 15258860 2004
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 CausalMutation disease CLINVAR One of these genes, ADP-ribosylation factor-like 6 (ARL6), contains a homozygous stop mutation that segregates completely with the disease in the Bedouin kindred originally used to map the BBS3 locus, identifying this gene as the BBS3 gene. 15258860 2004
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 GeneticVariation disease UNIPROT One of these genes, ADP-ribosylation factor-like 6 (ARL6), contains a homozygous stop mutation that segregates completely with the disease in the Bedouin kindred originally used to map the BBS3 locus, identifying this gene as the BBS3 gene. 15258860 2004
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 Biomarker disease CTD_human
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2847
Gene Symbol: MCHR1
MCHR1 		0.010 Biomarker disease BEFREE Loss of Bbs3 does not affect BBSome formation but disrupts normal localization of melanin concentrating hormone receptor 1 to ciliary membranes and affects retrograde transport of Smoothened inside cilia. 22139371 2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		0.010 Biomarker disease BEFREE We hypothesized that the genomes of model organisms that contained the orthologues to known BBS genes would also likely contain a BBS3 orthologue. 15258860 2004