Disease Term Disease ID Gene Symbol Classification References Source
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT C4013360 DCAF8 Causal Pathogenic evidence from ClinVar 24500646 ClinVar
Giant Axonal Neuropathy, Autosomal Dominant C1864695 DCAF8 Causal Pathogenic evidence from ClinVar - ClinVar
Giant axonal neuropathy 643 GAN Causal Pathogenic evidence from ClinVar - ClinVar
GIANT AXONAL NEUROPATHY 1 C1850386 GAN Causal Pathogenic evidence from ClinVar 11062483, 11971098, 12655563, 14718689, 16303566, 17578852, 17587580, 23248352, 23890932 ClinVar