LAMA1, laminin subunit alpha 1, 284217

N. diseases: 27; N. variants: 13
Source: CLINVAR ×
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 1 12 2011 2014
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 45 52 0.110 None 1.000 0 1 2016 2016
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 13 20 0.110 None 1.000 0 1 2016 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 162 240 0.100 None 1.000 14 1 1981 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 14 1 1981 2016
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 6 7 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 0 1
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 8 0.100 None 0 1
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 30 32 0.100 None 0 1
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 8 9 0.100 None 0 2
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype Behavior and Behavior Mechanisms Individual Behavior 13 18 0.100 None 0 1
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		disease Mental or Behavioral Dysfunction 4 4 0.100 None 0 1
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype Finding 11 13 0.100 None 0 1
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype Finding 2 3 0.100 None 0 1
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype Finding 11 13 0.100 None 0 1
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 39 51 0.100 None 0 1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 54 69 0.100 None 1.000 0 2 2012 2012
CUI: C0017152
Disease: Gastritis
Gastritis 		disease Digestive System Diseases Disease or Syndrome 3 3 0.100 None 0 1
CUI: C0018681
Disease: Headache
Headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 19 23 0.100 None 0 1
CUI: C0027497
Disease: Nausea
Nausea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 3 4 0.100 None 0 1
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 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 3 5 0.100 None 0 1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 124 192 0.100 None 0 1
CUI: C0563243
Disease: Poor coordination
Poor coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 8 0.100 None 0 1