rs769234940, CHAT

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