LAMA1, laminin subunit alpha 1, 284217

N. diseases: 107; N. variants: 21
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: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 1 12 0.610 strong 1.000 2 12 2011 2014
CUI: C1167782
Disease: Lung hyperinflation
Lung hyperinflation 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1834531
Disease: MYOPIA 2 (disorder)
MYOPIA 2 (disorder) 		disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		disease Mental or Behavioral Dysfunction 4 4 0.100 None 0 1
CUI: C0349557
Disease: Gestational choriocarcinoma
Gestational choriocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 5 0.010 None 1.000 1 1991 1991
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.100 None 0 1
CUI: C3549703
Disease: Retinal thinning
Retinal thinning 		phenotype Finding 11 0.100 None 0
CUI: C0852262
Disease: Placental abnormalities (excl neoplasms)
Placental abnormalities (excl neoplasms) 		disease Disease or Syndrome 12 0.010 None 1.000 1 2016 2016
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		phenotype Finding 13 1 0.100 None 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype Finding 14 3 0.100 None 0 1
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		phenotype Finding 15 1 0.100 None 0 1
CUI: C0730607
Disease: Severe chronic obstructive pulmonary disease
Severe chronic obstructive pulmonary disease 		disease Respiratory Tract Diseases Disease or Syndrome 23 0.010 None 1.000 1 2018 2018
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		disease Eye Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C0563243
Disease: Poor coordination
Poor coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 8 0.100 None 0 1
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 27 6 0.100 None 0 1
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype Finding 28 13 0.100 None 0 1
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 30 4 0.010 None 1.000 1 2018 2018
CUI: C0740304
Disease: COPD exacerbation
COPD exacerbation 		disease Disease or Syndrome 33 2 0.010 None 1.000 1 2019 2019
CUI: C0877009
Disease: Muscle fibrosis
Muscle fibrosis 		phenotype Sign or Symptom 34 0.010 None 1.000 1 2019 2019
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype Finding 36 13 0.100 None 0 1
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		disease Eye Diseases Disease or Syndrome 39 58 0.010 None 1.000 1 1 2016 2016
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 45 7 0.100 None 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 0 1
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		disease Injury or Poisoning 55 54 0.100 None 1.000 1 1 2019 2019
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