Disease Term Disease ID Gene Symbol Classification References Source
SENIOR LOKEN SYNDROME NPHP1 Unknown CTD
SENIOR-LOKEN SYNDROME CEP164 Unknown Orphanet
CEP290 Unknown GenCC Orphanet
INVS Unknown GWAS catalog Orphanet
IQCB1 Unknown CTD Orphanet
NPHP1 Unknown Disgenet Orphanet
NPHP3 Unknown GenCC Orphanet
NPHP4 Unknown Disgenet Orphanet
SCLT1 Unknown GenCC
SDCCAG8 Unknown Disgenet Orphanet
TRAF3IP1 Unknown GWAS catalog Orphanet
WDR19 Unknown GWAS catalog Orphanet
SENIOR-LOKEN SYNDROME 1 CEP290 Causal Disgenet
NPHP1 Causal ClinVar Disgenet HPO
IQCB1 Unknown Disgenet
NPHP4 Unknown Disgenet
SDCCAG8 Unknown Disgenet
TRAF3IP1 Unknown Disgenet
WDR19 Unknown Disgenet
SENIOR-LOKEN SYNDROME 4 NPHP4 Causal CTD ClinVar Disgenet GenCC HPO
SENIOR-LOKEN SYNDROME 5 IQCB1 Causal CTD ClinVar Disgenet GenCC HPO
SENIOR-LOKEN SYNDROME 6 CEP290 Causal CTD ClinVar Disgenet HPO
RLIG1 Unknown Disgenet
SENIOR-LOKEN SYNDROME 7 SDCCAG8 Causal ClinVar Disgenet GWAS catalog HPO
AKT3 Unknown Disgenet
SENIOR-LOKEN SYNDROME 8 WDR19 Causal ClinVar Disgenet GWAS catalog HPO
SENIOR-LOKEN SYNDROME 9 TRAF3IP1 Causal ClinVar Disgenet GWAS catalog HPO