SMN2, survival of motor neuron 2, centromeric, 6607

N. diseases: 299; N. variants: 35
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: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 320 33 0.700 strong 0.985 681 13 1993 2020
HMN (Hereditary Motor Neuropathy) Proximal Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 8 0.700 None 0.967 30 8 1978 2019
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 17 0.700 None 1.000 15 17 1996 2017
Spinal Muscular Atrophies of Childhood
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.510 None 1.000 2 2004 2010
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 9 0.440 None 1.000 5 9 2006 2013
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 16 8 0.320 None 1.000 3 1997 2011
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 16 1 0.320 None 1.000 3 2002 2013
CUI: C0270765
Disease: Myelopathic Muscular Atrophy
Myelopathic Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 7 0.310 None 1.000 2 1996 2011
Scapuloperoneal Form of Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 3 5 0.300 None 1.000 1 2011 2011
CUI: C3661519
Disease: Hereditary Motor Neuronopathy
Hereditary Motor Neuronopathy
disease Nervous System Diseases Disease or Syndrome 12 1 0.300 None 1.000 1 2011 2011
Progressive Proximal Myelopathic Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2011 2011
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2011 2011
Oculopharyngeal Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2011 2011
Muscular atrophy, spinal, infantile chronic form
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.180 None 1.000 9 1 2007 2019
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.110 None 1.000 1 1 2011 2011
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group Nervous System Diseases Disease or Syndrome 171 50 0.100 None 0.976 41 1998 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
disease Nervous System Diseases Disease or Syndrome 186 52 0.100 None 1.000 31 1997 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.964 28 2001 2020
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 1.000 27 2 2000 2020
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.100 None 0.870 23 1996 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.100 None 0.947 19 2017 2020
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.100 None 1.000 14 2012 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 13 2001 2019
CUI: C4024957
Disease: Proximal spinal muscular atrophy
Proximal spinal muscular atrophy
disease Nervous System Diseases Disease or Syndrome 10 0.100 None 0.923 13 1995 2018