Renal-hepatic-pancreatic dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Renal-hepatic-pancreatic dysplasia 294415 NEK8 Causal Pathogenic evidence from ClinVar - ClinVar
NPHP3 Causal Pathogenic evidence from ClinVar - ClinVar
RENAL-HEPATIC-PANCREATIC DYSPLASIA C2673883 NEK8 Causal Pathogenic evidence from ClinVar 23418306, 26862157 ClinVar
NPHP3 Causal Pathogenic evidence from ClinVar 18371931, 20007846 ClinVar
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 C3809434 NEK8 Causal Pathogenic evidence from ClinVar 23418306, 26862157 ClinVar
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 C3715199 NPHP3 Causal Pathogenic evidence from ClinVar 12872122, 18371931, 20007846, 23686967, 27894351 ClinVar
NPHP3-ACAD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18371931, 20007846, 27894351 -