Disease Term Disease ID Gene Symbol Classification References Source
Sialuria 3166, C0342853 GNE Causal Pathogenic evidence from ClinVar 2808337, 10330343, 10356312, 11326336, 11528398, 12409274, 12473753, 12473769, 12497639, 14707127, 15147877, 15670773, 15987957, 16503651, 16810679, 20059379, 20175955, 20300792, 21307865, 21708040, 22196754, 22507750, 23278550, 23437777, 23549799, 24005727, 24136589, 24695763, 24796702, 25002140, 25182749, 26231298, 27829678, 28717665 ClinVar
CLTA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11528398, 12409274, 12473753, 12473769, 12497639, 14707127, 15147877, 15670773, 15987957, 16503651, 16810679, 20059379, 20175955, 20300792, 21307865, 21708040, 22196754, 22507750, 23278550, 23437777, 23549799, 24005727, 24136589, 24695763, 24796702, 25002140, 25182749, 26231298, 27829678, 28717665 -
SLC17A5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -