Disease Term Disease ID Gene Symbol Classification References Source
Spastic Quadriplegia C0426970 ADAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANKLE2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AP4E1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AP4M1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARSA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ASNS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ASXL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATP13A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AUH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BCL11B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CACNA1E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CLIC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CNPY3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COASY Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COLGALT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CSF1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CTNNA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CYB5A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CYB5R3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DEGS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ELOVL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FUCA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GAD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLYCTK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GRIA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HSD17B10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IBA57 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFIH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IRF2BPL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ISCA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KANK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIF2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIF5C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LIAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MCOLN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MECP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MOCS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MOCS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MRPS22 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NALCN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NDE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NDUFAF4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OSTM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OTUD6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PCDH12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -