Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 GeneticVariation disease BEFREE A mutation in SDCCAG8 is also associated with Bardet-Biedl syndrome (BBS), characterized by NPHP, obesity, polydactyly, and rod-cone dystrophy. 31534065 2019
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 Biomarker disease BEFREE Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also associated with BBS. 29444170 2018
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 GeneticVariation disease BEFREE A sibship of East Indian origin who carried a putative clinical diagnosis of BBS had compound heterozygous mutations in SDCCAG8 (p.Thr482LysfsX12/p.Asp543AlafsX24). 22626039 2012
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 Biomarker disease GENOMICS_ENGLAND Interestingly, none of the patients with primary SDCCAG8 mutations had polydactyly, a frequent but not obligatory BBS feature. 22190896 2011
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 Biomarker disease GENOMICS_ENGLAND Interestingly, none of the patients with primary SDCCAG8 mutations had polydactyly, a frequent but not obligatory BBS feature. 22190896 2011
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 GeneticVariation disease BEFREE To date, mutations in 15 genes (BBS1-BBS14, SDCCAG8) have been described to cause BBS. 21052717 2011
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 GermlineCausalMutation disease ORPHANET Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 CausalMutation disease CLINVAR
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896 2011
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 CausalMutation disease CLINVAR Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896 2011
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker disease GENOMICS_ENGLAND Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 CausalMutation disease CLINVAR Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 GeneticVariation disease CLINVAR Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker disease CTD_human
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 Biomarker disease BEFREE Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Løken syndrome. 24674142 2013
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 GermlineCausalMutation disease ORPHANET Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. 22819833 2012
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 Biomarker disease GENOMICS_ENGLAND Mutations in SDCCAG8(NPHP10) were described recently in patients with nephronophthisis and retinal degeneration (Senior-Loken syndrome; SLS). 22190896 2011
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 Biomarker disease GENOMICS_ENGLAND Mutations in SDCCAG8(NPHP10) were described recently in patients with nephronophthisis and retinal degeneration (Senior-Loken syndrome; SLS). 22190896 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.440 GeneticVariation disease BEFREE A mutation in SDCCAG8 is also associated with Bardet-Biedl syndrome (BBS), characterized by NPHP, obesity, polydactyly, and rod-cone dystrophy. 31534065 2019
CUI: C0028754
Disease: Obesity
Obesity 		0.440 GeneticVariation disease BEFREE We genotyped obesity risk single nucleotide polymorphisms (SNPs) derived from genome-wide association studies in or in proximity to the following genes: NEGR1, TNKS, SDCCAG8, FTO, MC4R, TMEM18, PTER, MTCH2, SH2B1, MAF, NPC1, and KCTD15. 23843577 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.440 GeneticVariation disease BEFREE Intronic variants of SDCCAG8, which are associated with early onset obesity, are associated with reduced weight loss after a 1-year lifestyle intervention in overweight children and adolescents even after adjusting for age, sex, baseline measurement, or multiple testing (all P < 10(-6)). 22095114 2012
CUI: C0028754
Disease: Obesity
Obesity 		0.440 GeneticVariation disease GWASDB Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. 20421936 2010