LAMB2, laminin subunit beta 2, 3913

N. diseases: 116; N. variants: 17
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: C1836876
Disease: Pierson syndrome
Pierson syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 7 13 1.000 None 1.000 27 13 1995 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.100 None 1.000 15 1 2006 2020
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.140 None 1.000 4 1 2006 2017
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
disease Disease or Syndrome 1 10 0.700 strong 1.000 4 10 2010 2018
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.030 None 1.000 3 2016 2018
Diffuse mesangial sclerosis (disorder)
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 0.420 None 1.000 3 2004 2008
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.320 None 1.000 3 2009 2016
CUI: C0027720
Disease: Nephrosis
Nephrosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 68 0.220 None 1.000 2 2004 2006
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.020 None 1.000 2 2008 2014
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.020 None 1.000 2 2006 2006
Steroid resistant nephrotic syndrome of childhood
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 19 0.020 None 1.000 2 2014 2017
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.210 None 1.000 2 2010 2012
Steroid-resistant nephrotic syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.020 None 1.000 2 2014 2017
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 0.110 None 1.000 1 2008 2008
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.010 None 1.000 1 2012 2012
CUI: C0036429
Disease: Sclerosis
Sclerosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.010 None 1.000 1 2004 2004
CUI: C0149520
Disease: Acute Cholecystitis
Acute Cholecystitis
disease Digestive System Diseases Disease or Syndrome 21 0.010 None 1.000 1 2017 2017
CUI: C0042798
Disease: Low Vision
Low Vision
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.010 None 1.000 1 2006 2006
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.010 None 1.000 1 2006 2006
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 113 9 0.010 None 1.000 1 1990 1990
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2008 2008
CUI: C3489732
Disease: Familial mesangial sclerosis
Familial mesangial sclerosis
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.300 None 1.000 1 2004 2004
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2009 2009
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.010 None 1.000 1 2020 2020
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
disease Digestive System Diseases; Infections Disease or Syndrome 430 80 0.010 None 1.000 1 2004 2004