CHAT, choline O-acetyltransferase, 1103

N. diseases: 230; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 CausalMutation disease CLINVAR
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 Biomarker disease CTD_human
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype HPO
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.200 CausalMutation disease CLINVAR
CUI: C0003578
Disease: Apnea
Apnea 		0.180 Biomarker phenotype HPO
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.110 Biomarker phenotype HPO
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.110 Biomarker phenotype HPO
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.110 Biomarker disease HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 CausalMutation phenotype CLINVAR
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.100 CausalMutation disease CLINVAR
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0012569
Disease: Diplopia
Diplopia 		0.100 Biomarker phenotype HPO
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 CausalMutation phenotype CLINVAR
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		0.100 CausalMutation disease CLINVAR
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 CausalMutation phenotype CLINVAR