Disease Term Disease ID Gene Symbol Classification References Source
CEREBELLAR ATAXIA DYNC1H1 Unknown Disgenet
ESR1 Unknown Disgenet
FAT2 Unknown Disgenet
FZR1 Unknown Disgenet
GBA2 Unknown Disgenet
GJB1 Unknown Disgenet
HARS1 Unknown Disgenet
ITPR1 Unknown Disgenet
KCNA6 Unknown Disgenet
KIF7 Unknown Disgenet
L1CAM Unknown Disgenet
L2HGDH Unknown Disgenet
ND1 Unknown Disgenet
ND2 Unknown Disgenet
ND3 Unknown Disgenet
ND4 Unknown Disgenet
ND4L Unknown Disgenet
ND5 Unknown Disgenet
NOP56 Unknown Disgenet
NPC1 Unknown Disgenet
PDE1B Unknown Disgenet
PEX6 Unknown Disgenet
PITRM1 Unknown Disgenet
PMPCA Unknown Disgenet
POLG Unknown Disgenet
POMT1 Unknown Disgenet
PRKCG Unknown Disgenet
RFC1 Unknown CTD Disgenet
RNF14 Unknown Disgenet
RPGRIP1L Unknown Disgenet
RPL27A Unknown CTD Disgenet
SEPSECS Unknown Disgenet
SLC36A1 Unknown Disgenet
SPART Unknown Disgenet
TPTEP2-CSNK1E Unknown Disgenet
VPS39 Unknown Disgenet
CEREBELLAR ATAXIA, CAYMAN TYPE ATCAY Unknown CTD Disgenet HPO Orphanet
CEREBELLAR ATAXIA, EARLY ONSET POLR1C Unknown Disgenet
POLR3A Unknown Disgenet
POLR3B Unknown Disgenet