USP7, ubiquitin specific peptidase 7, 7874

N. diseases: 153; N. variants: 7
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: C4225667
Disease: CHROMOSOME 16p13.2 DELETION SYNDROME
CHROMOSOME 16p13.2 DELETION SYNDROME 		disease Disease or Syndrome 1 0.300 None 1.000 1 2015 2015
CUI: C4021650
Disease: Short third metatarsal
Short third metatarsal 		phenotype Anatomical Abnormality 3 2 0.100 None 0 1
CUI: C4024881
Disease: Few cafe-au-lait spots
Few cafe-au-lait spots 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 3 2 0.100 None 0 1
CUI: C0524541
Disease: Deciduoma
Deciduoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2019 2019
CUI: C4021649
Disease: Short fifth metatarsal
Short fifth metatarsal 		disease Anatomical Abnormality 4 1 0.100 None 0 1
CUI: C4023802
Disease: Hyperextensibility of the knee
Hyperextensibility of the knee 		phenotype Anatomical Abnormality 4 3 0.100 None 0 1
CUI: C4025212
Disease: Autonomic bladder dysfunction
Autonomic bladder dysfunction 		disease Nervous System Diseases Disease or Syndrome 5 1 0.100 None 0 1
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		phenotype Finding 8 2 0.100 None 0 1
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		phenotype Finding 8 6 0.100 None 0 1
CUI: C0233407
Disease: Disorientation
Disorientation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 12 0.010 None 1.000 1 2018 2018
CUI: C0266036
Disease: Macrodontia
Macrodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 1 0.100 None 0 1
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		phenotype Finding 13 13 0.100 None 0 1
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		phenotype Nervous System Diseases Finding 14 7 0.100 None 0 1
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.010 None 1.000 1 2013 2013
CUI: C0024449
Disease: Mycetoma
Mycetoma 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 19 0.010 None 1.000 1 2012 2012
CUI: C0040247
Disease: Tinea
Tinea 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2012 2012
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2020 2020
CUI: C1334815
Disease: Multi-centric Castleman's Disease
Multi-centric Castleman's Disease 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 29 0.010 None 1.000 1 2018 2018
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype Disease or Syndrome 30 25 0.100 None 0 1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0 1
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 69 0.010 None 1.000 1 2020 2020
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0 1
CUI: C0920299
Disease: Overriding toe
Overriding toe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0 1
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype Finding 52 9 0.100 None 0 1