Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		0.720 GeneticVariation disease UNIPROT Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. 23219996 2013
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		0.720 Biomarker disease GENOMICS_ENGLAND Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. 19858128 2010
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		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
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		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
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		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
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		0.720 GeneticVariation disease UNIPROT Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 15314642 2004
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		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
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		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
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		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
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		0.720 Biomarker disease CTD_human
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C3150808
Disease: RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 55 		0.700 GeneticVariation disease UNIPROT Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407 2009
CUI: C3150808
Disease: RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 55 		0.700 Biomarker disease GENOMICS_ENGLAND The embryonic expression patterns and the knockdown phenotypes of zebrafish ADP-ribosylation factor-like 6 interacting protein gene. 19097054 2009
CUI: C3150808
Disease: RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 55 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407 2009
CUI: C3150808
Disease: RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 55 		0.700 Biomarker disease GENOMICS_ENGLAND Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 15258860 2004
CUI: C3150808
Disease: RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 55 		0.700 CausalMutation disease CLINVAR Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 15258860 2004
CUI: C3150808
Disease: RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 55 		0.700 Biomarker disease CTD_human
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 GeneticVariation disease CLINVAR Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. 23219996 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker disease GENOMICS_ENGLAND These data aid in our understanding of why patients with the BBS3 A89V missense mutation only present with isolated retinitis pigmentosa. 21282186 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker disease GENOMICS_ENGLAND These data aid in our understanding of why patients with the BBS3 A89V missense mutation only present with isolated retinitis pigmentosa. 21282186 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 GeneticVariation disease BEFREE BBS3 mutations can rarely present as nonsyndromic RP. 19956407 2009
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker disease CTD_human
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.480 GeneticVariation disease BEFREE 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.480 Biomarker disease GENOMICS_ENGLAND Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. 21282186 2011