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: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		disease Neoplasms Neoplastic Process 517 25 0.010 None 1.000 1 2003 2003
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.010 None 1.000 1 2012 2012
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		disease Neoplasms Neoplastic Process 198 1 0.010 None < 0.001 1 2008 2008
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2011 2011
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 2014 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2015 2015
CUI: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		phenotype Sign or Symptom 95 12 0.010 None 1.000 1 2017 2017
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		disease Neoplasms; Immune System Diseases Neoplastic Process 94 11 0.010 None 1.000 1 2018 2018
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma 		disease Neoplasms Neoplastic Process 79 9 0.010 None 1.000 1 1997 1997
CUI: C0205882
Disease: Infections, Parvovirus
Infections, Parvovirus 		group Infections Disease or Syndrome 12 0.010 None 1.000 1 2002 2002
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 28 128 0.010 None 1.000 1 2019 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None < 0.001 1 2001 2001
CUI: C0155141
Disease: Acute conjunctivitis
Acute conjunctivitis 		disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 1999 1999
CUI: C0154681
Disease: Anterior Horn Cell Disease
Anterior Horn Cell Disease 		disease Nervous System Diseases Disease or Syndrome 8 1 0.010 None < 0.001 1 2002 2002
CUI: C0152256
Disease: Disuse osteoporosis
Disuse osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.010 None 1.000 1 2013 2013
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2018 2018
CUI: C0242429
Disease: Sore Throat
Sore Throat 		phenotype Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Sign or Symptom 18 2 0.010 None 1.000 1 1996 1996
CUI: C0242723
Disease: Parasitemia
Parasitemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 140 3 0.010 None 1.000 1 2013 2013
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2014 2014
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm 		disease Neoplasms Neoplastic Process 179 34 0.010 None 1.000 1 2019 2019
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma 		disease Neoplasms Neoplastic Process 198 1 0.010 None < 0.001 1 2008 2008
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2014 2014