USP8, ubiquitin specific peptidase 8, 9101

N. diseases: 136; N. variants: 12
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: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.100 None 0
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome 33 0.100 None 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.100 None 0
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		phenotype Nutritional and Metabolic Diseases Finding 21 0.100 None 0
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.100 None 0
CUI: C0040261
Disease: Onychomycosis
Onychomycosis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 27 2 0.100 None 0
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C0085633
Disease: Mood swings
Mood swings 		disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.100 None 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 41 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.100 None 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.100 None 0
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C0239488
Disease: Facial erythema
Facial erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 185 34 0.100 None 0