Disease: SENIOR-LOKEN SYNDROME 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 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: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 CausalMutation disease CLINVAR Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896 2011
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 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: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 CausalMutation disease CLINVAR Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 GeneticVariation disease CLINVAR Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker disease GENOMICS_ENGLAND Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker disease GENOMICS_ENGLAND