Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY PEX10 Unknown Disgenet GWAS catalog Orphanet
AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX16 DEFICIENCY PEX16 Unknown Disgenet Orphanet
AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX2 DEFICIENCY PEX2 Unknown Disgenet Orphanet
AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY COQ8A Causal ClinVar GenCC Orphanet
AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE SYNE1 Causal ClinGen ClinVar GenCC Orphanet