PUS7, pseudouridine synthase 7, 54517

N. diseases: 26; N. variants: 0
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: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 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: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
phenotype Finding 105 3 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 182 25 0.100 None 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype Finding 141 14 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.430 strong 1.000 3 2018 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.410 strong 1.000 2 2018 2019
CUI: C0241210
Disease: Speech Delay
Speech Delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.010 None 1.000 1 2018 2018
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.010 None 1.000 1 2014 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.300 strong 1.000 1 2018 2018
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.400 strong 1.000 1 2018 2018
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.400 strong 1.000 1 2018 2018