Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 Biomarker GENOMICS_ENGLAND Interestingly, none of the patients with primary SDCCAG8 mutations had polydactyly, a frequent but not obligatory BBS feature. 22190896

2011
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 Biomarker GENOMICS_ENGLAND Interestingly, none of the patients with primary SDCCAG8 mutations had polydactyly, a frequent but not obligatory BBS feature. 22190896

2011
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582

2015
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker GENOMICS_ENGLAND Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896

2011
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker GENOMICS_ENGLAND Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237

2010
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3889474
Disease: BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 16 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 Biomarker GENOMICS_ENGLAND Mutations in SDCCAG8(NPHP10) were described recently in patients with nephronophthisis and retinal degeneration (Senior-Loken syndrome; SLS). 22190896

2011
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 Biomarker GENOMICS_ENGLAND Mutations in SDCCAG8(NPHP10) were described recently in patients with nephronophthisis and retinal degeneration (Senior-Loken syndrome; SLS). 22190896

2011
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0028754
Disease: Obesity
Obesity 		0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582

2015
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582

2015
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker GENOMICS_ENGLAND Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896

2011
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker GENOMICS_ENGLAND Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896

2011
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker GENOMICS_ENGLAND Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237

2010
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND