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: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0038450
Disease: Stridor
Stridor 		0.100 Biomarker phenotype HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 Biomarker disease HPO
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		0.100 CausalMutation disease CLINVAR
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		0.100 Biomarker phenotype HPO
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.100 Biomarker phenotype HPO
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0234860
Disease: Weak cry
Weak cry 		0.100 Biomarker phenotype HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		0.100 CausalMutation phenotype CLINVAR
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		0.100 Biomarker phenotype HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		0.100 Biomarker phenotype HPO
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.100 Biomarker disease HPO
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		0.100 Biomarker disease HPO