Pfaundler-hurler syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Pfaundler-Hurler Syndrome C0086795 AGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARSB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CTSA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FGFR1 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 - -
GNE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNPTAB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNPTG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GUSB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HGSNAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IDS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IDUA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1301196, 1301941, 1550122, 7550232, 7550242, 7951228, 7985044, 8019563, 8019572, 8213840, 8318992, 8328452, 8401515, 8664897, 8680403, 9391892, 9748610, 9787109, 10215409, 10466419, 10607946, 10735634, 10738517, 11159948, 11735025, 11903343, 12203999, 12509712, 12559846, 14516901, 15081804, 15194053, 15300847, 16188808, 16435195, 16435211, 16438163, 17570076, 17606547, 18463126, 19309154, 19396826, 19751987, 21253827, 21394825, 21480867, 21963080, 22074387, 22822036, 22976768, 23084433, 23430803, 23786846, 23837464, 23917744, 24036510, 24368159, 24480078, 24798265, 24875751, 25098213, 25256405, 25525159, 25557439, 25614311, 26825088, 27146977, 27196898, 27392569, 27511503, 27520059, 27604308, 28752568, 29801497 -
KRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MAN2B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NAGLU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEU1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RINT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SGSH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC26A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1301941, 7550232, 8019563, 8328452, 10215409, 11735025, 12203999, 16438163, 19396826, 21394825, 23430803, 23786846, 25256405, 25557439, 27146977, 27511503 -
SUMF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
VPS33A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -