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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0752324
Disease: Focal Tonic Seizures
Focal Tonic Seizures 		disease Nervous System Diseases Disease or Syndrome 5 1 0.100 None 0
CUI: C0853085
Disease: Decreased LDL cholesterol concentration
Decreased LDL cholesterol concentration 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 9 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder 		phenotype Digestive System Diseases Disease or Syndrome 346 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1864365
Disease: Acromesomelia
Acromesomelia 		phenotype Finding 5 0.100 None 0
CUI: C1864716
Disease: Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy 		phenotype Finding 11 0.100 None 0
CUI: C4073157
Disease: Decreased CSF biopterin level
Decreased CSF biopterin level 		phenotype Finding 1 0.100 None 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.100 None 0
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		phenotype Finding 7 2 0.100 None 0
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 56 4 0.100 None 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.100 None 0
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity 		phenotype Finding 7 1 0.100 None 0
CUI: C4476710
Disease: Delayed ability to sit
Delayed ability to sit 		phenotype Finding 3 1 0.100 None 0
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
Decreased CSF 5-hydroxyindolacetic acid 		phenotype Finding 2 2 0.100 None 0
CUI: C4476790
Disease: Decreased CSF protein
Decreased CSF protein 		phenotype Finding 1 0.100 None 0
CUI: C4476792
Disease: High myoinositol in brain by MRS
High myoinositol in brain by MRS 		phenotype Finding 2 0.100 None 0
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