rs1060499679, GNPTAB

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
137 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
101 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
Recurrent pneumonia
CUI: C0694550
Disease: Recurrent pneumonia
11 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0