TTC8, tetratricopeptide repeat domain 8, 123016

N. diseases: 72; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859566
Disease: BARDET-BIEDL SYNDROME 8
BARDET-BIEDL SYNDROME 8 		0.800 Biomarker disease MGD Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. 21646512 2011
CUI: C1859566
Disease: BARDET-BIEDL SYNDROME 8
BARDET-BIEDL SYNDROME 8 		0.800 Biomarker disease GENOMICS_ENGLAND BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 19402160 2009
CUI: C1859566
Disease: BARDET-BIEDL SYNDROME 8
BARDET-BIEDL SYNDROME 8 		0.800 Biomarker disease GENOMICS_ENGLAND Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. 14520415 2003
CUI: C1859566
Disease: BARDET-BIEDL SYNDROME 8
BARDET-BIEDL SYNDROME 8 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1859566
Disease: BARDET-BIEDL SYNDROME 8
BARDET-BIEDL SYNDROME 8 		0.800 Biomarker disease CTD_human
CUI: C1859566
Disease: BARDET-BIEDL SYNDROME 8
BARDET-BIEDL SYNDROME 8 		0.800 CausalMutation disease CLINVAR
CUI: C1859566
Disease: BARDET-BIEDL SYNDROME 8
BARDET-BIEDL SYNDROME 8 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3150715
Disease: RETINITIS PIGMENTOSA 51
RETINITIS PIGMENTOSA 51 		0.600 Biomarker disease GENOMICS_ENGLAND A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 20451172 2010
CUI: C3150715
Disease: RETINITIS PIGMENTOSA 51
RETINITIS PIGMENTOSA 51 		0.600 CausalMutation disease CLINVAR
CUI: C3150715
Disease: RETINITIS PIGMENTOSA 51
RETINITIS PIGMENTOSA 51 		0.600 Biomarker disease CTD_human
CUI: C3150715
Disease: RETINITIS PIGMENTOSA 51
RETINITIS PIGMENTOSA 51 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.410 GeneticVariation disease BEFREE A genome-wide scan of a consanguineous RP pedigree mapped the trait to a 5.6 Mb region; subsequent systematic sequencing of candidate transcripts identified a homozygous splice-site mutation in a previously unknown BBS8 exon. 20451172 2010
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.410 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C0028754
Disease: Obesity
Obesity 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0028754
Disease: Obesity
Obesity 		0.400 Biomarker disease HPO
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease HPO
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.340 Biomarker disease BEFREE Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. 21646512 2011
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.340 Biomarker disease MGD To explore the nature of olfactory defects in BBS, a genetic ablation of the mouse Bbs8 gene that incorporates a fluorescent reporter protein was created. 21646512 2011
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.340 Biomarker disease BEFREE This study confirms the small role of BBS7 and TTC8 in the overall mutational load of BBS patients. 19402160 2009
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.340 GeneticVariation disease BEFREE Mutations in BBS8 probably account for only a minority of BBS families (2%), underlining the difficulty of genotyping heterogeneous conditions. 16308660 2006
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.340 GeneticVariation disease LHGDN In one family, a homozygous null BBS8 mutation leads to BBS with randomization of left-right body axis symmetry, a known defect of the nodal cilium. 14520415 2003
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.340 GeneticVariation disease BEFREE In one family, a homozygous null BBS8 mutation leads to BBS with randomization of left-right body axis symmetry, a known defect of the nodal cilium. 14520415 2003
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.340 CausalMutation disease CLINVAR