USP18, ubiquitin specific peptidase 18, 11274

N. diseases: 79; N. variants: 2
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: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 3 0.510 strong 1.000 1 2016 2016
CUI: C4479376
Disease: PSEUDO-TORCH SYNDROME 2
PSEUDO-TORCH SYNDROME 2
disease Disease or Syndrome 1 1 0.500 None 1.000 3 1 2003 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.340 None 1.000 4 2012 2018
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma
disease Neoplasms Neoplastic Process 213 5 0.310 None 1.000 1 2015 2015
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.310 None 1.000 1 2017 2017
CUI: C0205815
Disease: Leiomyosarcoma, Epithelioid
Leiomyosarcoma, Epithelioid
disease Neoplasms Neoplastic Process 11 0.300 None 1.000 1 2015 2015
CUI: C0205816
Disease: Leiomyosarcoma, Myxoid
Leiomyosarcoma, Myxoid
disease Neoplasms Neoplastic Process 14 0.300 None 1.000 1 2015 2015
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.300 None 1.000 1 2017 2017
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.300 moderate 1.000 1 2016 2016
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 26 0.300 None 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 6 19 0.300 None 0
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 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: C0428977
Disease: Bradycardia
Bradycardia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 63 2 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 67 3 0.100 None 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.100 None 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 59 5 0.100 None 0
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 0.100 None 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.100 None 0