EMC1-AS1, EMC1 antisense RNA 1, 101927895

N. diseases: 15; N. variants: 4
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: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.100 None 1.000 2 1 2016 2017
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 1.000 2 1 2016 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 1.000 2 1 2016 2017
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 13 0.100 None 1.000 2 1 2016 2017
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality 11 6 0.100 None 1.000 2 1 2016 2017
CUI: C0426961
Disease: Dystonic posture
Dystonic posture
phenotype Finding 2 1 0.100 None 1.000 2 1 2016 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.100 None 1.000 2 1 2016 2017
CUI: C0241210
Disease: Speech Delay
Speech Delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.100 None 1.000 2 1 2016 2017
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 1.000 2 1 2016 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 1.000 2 1 2016 2017
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 1.000 2 1 2016 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 2 1 2013 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 2 1 2013 2016
CUI: C1968949
Disease: Cakut
Cakut
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 8 0.100 None 1.000 1 1 2017 2017
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
disease Disease or Syndrome 2 4 0.100 None 0 3