rs1057518644, HGSNAT

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MPS III C
CUI: C0086649
Disease: MPS III C
0.700 GeneticVariation CLINVAR Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia. 27733599 2017
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.700 CausalMutation CLINVAR
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.700 CausalMutation CLINVAR
Pfaundler-Hurler Syndrome
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
0.700 CausalMutation CLINVAR
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Facial hirsutism
CUI: C1850041
Disease: Facial hirsutism
0.700 CausalMutation CLINVAR
MPS III C
CUI: C0086649
Disease: MPS III C
0.700 CausalMutation CLINVAR
Cranial hyperostosis
CUI: C1832451
Disease: Cranial hyperostosis
0.700 CausalMutation CLINVAR
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
0.700 CausalMutation CLINVAR
Echolalia
CUI: C0013528
Disease: Echolalia
0.700 CausalMutation CLINVAR