Senior-loken syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Senior-Loken syndrome 3156 CEP290 Causal Pathogenic evidence from ClinVar - ClinVar
IQCB1 Causal Pathogenic evidence from ClinVar - ClinVar
NPHP4 Causal Pathogenic evidence from ClinVar - ClinVar
SDCCAG8 Causal Pathogenic evidence from ClinVar - ClinVar
TRAF3IP1 Causal Pathogenic evidence from ClinVar - ClinVar
WDR19 Causal Pathogenic evidence from ClinVar - ClinVar
CEP164 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
INVS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NPHP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NPHP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SENIOR-LOKEN SYNDROME 6 C1857779 CEP290 Causal Pathogenic evidence from ClinVar 16909394, 17345604, 17564974, 18327255, 20683928, 20690115, 30055837 ClinVar
Senior-Loken Syndrome 1 C4551559 IQCB1 Causal Pathogenic evidence from ClinVar - ClinVar
NPHP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 266900, 9382140, 22982934 -
TTC21B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TTC21B-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Senior-Loken Syndrome 5 C1836517 IQCB1 Causal Pathogenic evidence from ClinVar 15723066, 20881296, 23559409 ClinVar
SENIOR-LOKEN SYNDROME 4 C1846979 NPHP4 Causal Pathogenic evidence from ClinVar 12205563, 12244321, 15776426, 21546380, 22550138 ClinVar
SENIOR-LOKEN SYNDROME 7 C3150877 SDCCAG8 Causal Pathogenic evidence from ClinVar 20835237, 22190896, 25529582 ClinVar
SENIOR-LOKEN SYNDROME 9 C4225263 TRAF3IP1 Causal Pathogenic evidence from ClinVar 26487268 ClinVar
SENIOR-LOKEN SYNDROME 8 C4225376 WDR19 Causal Pathogenic evidence from ClinVar 22019273, 23559409, 23683095, 25726036, 27596865, 28621010 ClinVar