Disease Term Disease ID Gene Symbol Classification References Source
Goldmann-Favre syndrome 53540 NR2E3 Causal Pathogenic evidence from ClinVar - ClinVar
Goldmann-Favre syndrome (disorder) C0339541 NR2E3 Causal Pathogenic evidence from ClinVar 10655056, 11071390, 16024868, 17438525, 18294254, 18835469, 19006237, 19139342, 19273793, 19823680, 19898638, 26355662, 26894784, 27874104, 28944237 ClinVar