rs1057518644, HGSNAT

N. diseases: 10
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.
MPS III C
CUI: C0086649
Disease: MPS III C
38 0.925 0.120 8 43192413 stop gained C/T snv 0.700 1.000 1 2017 2017
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
Cranial hyperostosis
CUI: C1832451
Disease: Cranial hyperostosis
1 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
Delayed speech and language development
192 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
Echolalia
CUI: C0013528
Disease: Echolalia
4 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
Facial hirsutism
CUI: C1850041
Disease: Facial hirsutism
2 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
Pfaundler-Hurler Syndrome
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
90 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0