SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.060 None 1.000 6 2014 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.060 None 1.000 6 2012 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.060 None 1.000 6 2014 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.060 None 1.000 6 2007 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 2012 2019
CUI: C0751334
Disease: Progressive Proximal Myelopathic Muscular Atrophy
Progressive Proximal Myelopathic Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 5 2005 2016
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 5 0.300 None 1.000 5 2005 2016
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		disease Nervous System Diseases Disease or Syndrome 23 7 0.050 None 1.000 5 1998 2016
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 5 2005 2016
CUI: C0037933
Disease: Spinal Diseases
Spinal Diseases 		group Musculoskeletal Diseases Disease or Syndrome 16 0.050 None 1.000 5 2015 2018
CUI: C0393546
Disease: Oculopharyngeal Spinal Muscular Atrophy
Oculopharyngeal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 5 2005 2016
CUI: C3661519
Disease: Hereditary Motor Neuronopathy
Hereditary Motor Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 12 1 0.300 None 1.000 5 2005 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.340 strong 1.000 4 1996 1998
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		disease Eye Diseases Disease or Syndrome 142 14 0.030 None 1.000 3 2013 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.030 None 1.000 3 1998 2019
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea 		disease Eye Diseases Disease or Syndrome 169 4 0.030 None 1.000 3 2017 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.030 None 1.000 3 2017 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.030 None 1.000 3 2017 2019
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.030 None 0.667 3 2006 2014
CUI: C0033999
Disease: Pterygium
Pterygium 		disease Eye Diseases Disease or Syndrome 216 5 0.030 None 1.000 3 2017 2018
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye 		disease Eye Diseases Disease or Syndrome 169 4 0.030 None 1.000 3 2017 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.030 None 1.000 3 2018 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.030 None 1.000 3 2017 2019
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.030 None 0.667 3 1992 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.030 None 1.000 3 2018 2020