rs201439531, CHAT

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
0.700 CausalMutation CLINVAR
Decreased activity of the pyruvate dehydrogenase complex
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
0.700 CausalMutation CLINVAR
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
0.700 CausalMutation CLINVAR
Progressive ptosis
CUI: C1834015
Disease: Progressive ptosis
0.700 CausalMutation CLINVAR
Aspiration Pneumonia
CUI: C0032290
Disease: Aspiration Pneumonia
0.700 CausalMutation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.700 CausalMutation CLINVAR
External Ophthalmoplegia
CUI: C0162292
Disease: External Ophthalmoplegia
0.700 CausalMutation CLINVAR
Sleep Apnea, Central
CUI: C0520680
Disease: Sleep Apnea, Central
0.700 CausalMutation CLINVAR
Flatfoot
CUI: C0016202
Disease: Flatfoot
0.700 CausalMutation CLINVAR
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
0.700 CausalMutation CLINVAR