rs1060499681, GNPTAB

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pfaundler-Hurler Syndrome
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
0.700 GeneticVariation CLINVAR
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
0.700 GeneticVariation CLINVAR
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
0.700 GeneticVariation CLINVAR
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
0.700 GeneticVariation CLINVAR
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
0.700 GeneticVariation CLINVAR
Joint stiffness
CUI: C0162298
Disease: Joint stiffness
0.700 GeneticVariation CLINVAR