NGLY1, N-glycanase 1, 55768

N. diseases: 149; N. variants: 21
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4476891
Disease: Decreased CSF/serum albumin ratio
Decreased CSF/serum albumin ratio 		phenotype Finding 1 0.100 None 0
CUI: C4476893
Disease: Reduced brain glutamine level by MRS
Reduced brain glutamine level by MRS 		phenotype Finding 1 0.100 None 0
CUI: C4476932
Disease: Tarsal sclerosis
Tarsal sclerosis 		disease Disease or Syndrome 1 0.100 None 0
CUI: C4477005
Disease: Impaired oral bolus formation
Impaired oral bolus formation 		phenotype Digestive System Diseases; Otorhinolaryngologic Diseases Finding 1 0.100 None 0
CUI: C4477013
Disease: Impaired oropharyngeal swallow response
Impaired oropharyngeal swallow response 		phenotype Digestive System Diseases; Otorhinolaryngologic Diseases Finding 6 1 0.100 None 0
CUI: C4073157
Disease: Decreased CSF biopterin level
Decreased CSF biopterin level 		phenotype Finding 1 0.100 None 0
CUI: C4024154
Disease: Sunken cheeks
Sunken cheeks 		phenotype Finding 3 0.100 None 0
CUI: C4022947
Disease: Decreased resting energy expenditure
Decreased resting energy expenditure 		phenotype Finding 12 0.100 None 0
CUI: C2242579
Disease: Lingual dystonia
Lingual dystonia 		phenotype Sign or Symptom 4 0.100 None 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		phenotype Finding 76 2 0.100 None 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 112 10 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 92 14 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		phenotype Finding 16 1 0.100 None 0
CUI: C3887612
Disease: Psychomotor Agitation
Psychomotor Agitation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 26 0.100 None 0
CUI: C4020941
Disease: Sclerosis of finger phalanx
Sclerosis of finger phalanx 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 1
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C4022589
Disease: Fatigable weakness of speech muscles
Fatigable weakness of speech muscles 		phenotype Finding 1 0.100 None 0
CUI: C4022680
Disease: Lagopthalmos
Lagopthalmos 		disease Disease or Syndrome 3 1 0.100 None 0
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 147 27 0.100 None 0
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease Disease or Syndrome 60 14 0.100 None 0
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0