LAGE3, L antigen family member 3, 8270

N. diseases: 56; N. variants: 3
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.
MRSA - Methicillin resistant Staphylococcus aureus infection
disease Infections Disease or Syndrome 222 1 0.010 None 1.000 1 2018 2018
Steroid-resistant nephrotic syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.010 None 1.000 1 2018 2018
Steroid resistant nephrotic syndrome of childhood
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 19 0.010 None 1.000 1 2018 2018
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C1704320
Disease: Glomerulonephritis, Minimal Change
Glomerulonephritis, Minimal Change
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis
disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 106 20 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
Abnormality of the intervertebral disk
disease Anatomical Abnormality 30 0.100 None 0
Abnormality of immune system physiology
phenotype Pathologic Function 42 1 0.100 None 0
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage
phenotype Finding 14 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 0.100 None 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb
phenotype Musculoskeletal Diseases Finding 74 5 0.100 None 0
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 3 0.100 None 0
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease Nervous System Diseases Disease or Syndrome 34 2 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0