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: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
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: 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: C3501249
Disease: Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome
Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome 		phenotype 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 1 0.300 None 1.000 1 2004 2004
CUI: C1836890
Disease: Hypoplasia of the ciliary body
Hypoplasia of the ciliary body 		phenotype Finding 1 0.100 None 0
CUI: C4476808
Disease: Microcoria
Microcoria 		phenotype Finding 1 0.100 None 0
CUI: C4022580
Disease: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors 		phenotype Finding 2 0.100 None 0
CUI: C1303009
Disease: Microcoria, congenital
Microcoria, congenital 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Congenital Abnormality 3 2 0.010 None 1.000 1 2006 2006
CUI: C0344263
Disease: Posterior lenticonus
Posterior lenticonus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 0.100 None 0
CUI: C1864238
Disease: Prolonged miniature endplate currents
Prolonged miniature endplate currents 		phenotype Finding 3 0.100 None 0
CUI: C4022576
Disease: Slow pupillary light response
Slow pupillary light response 		phenotype Finding 4 0.100 None 0
CUI: C1862481
Disease: Limited wrist extension
Limited wrist extension 		phenotype Finding 5 0.100 None 0
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: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 8 2 0.010 None 1.000 1 2018 2018
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		phenotype Finding 11 1 0.100 None 0
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 13 8 0.010 None 1.000 1 2018 2018
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		disease Disease or Syndrome 13 3 0.010 None 1.000 1 2019 2019
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		phenotype Finding 13 0.100 None 0
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing 		phenotype Finding 14 0.100 None 0
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 14 1 0.100 None 0
CUI: C1849341
Disease: Triangular mouth
Triangular mouth 		phenotype Finding 14 0.100 None 0
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		phenotype Finding 14 2 0.100 None 0
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: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		disease Eye Diseases Congenital Abnormality 19 1 0.100 None 0