SNURF, SNRPN upstream reading frame, 8926

N. diseases: 63; N. variants: 1
Source: BEFREE ×
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: C0270765
Disease: Myelopathic Muscular Atrophy
Myelopathic Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 1996 1996
CUI: C4024957
Disease: Proximal spinal muscular atrophy
Proximal spinal muscular atrophy 		disease Nervous System Diseases Disease or Syndrome 10 0.090 None 0.889 9 1995 2013
CUI: C0205882
Disease: Infections, Parvovirus
Infections, Parvovirus 		group Infections Disease or Syndrome 12 0.010 None 1.000 1 2002 2002
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 13 1 0.050 None 1.000 5 1996 2015
CUI: C0037933
Disease: Spinal Diseases
Spinal Diseases 		group Musculoskeletal Diseases Disease or Syndrome 15 0.030 None 1.000 3 2015 2017
CUI: C0751870
Disease: Heredodegenerative Disorders, Nervous System
Heredodegenerative Disorders, Nervous System 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2008 2008
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2013 2013
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 2005 2005
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 5 0.010 None 1.000 1 1997 1997
CUI: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes 		disease Disease or Syndrome 18 0.010 None 1.000 1 2012 2012
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		disease Nervous System Diseases Disease or Syndrome 20 7 0.030 None 1.000 3 1998 2002
CUI: C1511934
Disease: Differentiating Neuroblastoma
Differentiating Neuroblastoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2009 2009
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 26 8 0.010 None 1.000 1 1997 1997
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 0.100 None 0.909 11 1996 2018
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 58 9 0.010 None 1.000 1 2002 2002
CUI: C0086445
Disease: Idiopathic Membranous Glomerulonephritis
Idiopathic Membranous Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 76 13 0.010 None 1.000 1 2020 2020
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 90 0.080 None 1.000 8 1994 2010
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 93 8 0.030 None 1.000 3 1996 1998
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 98 17 0.010 None 1.000 1 2013 2013
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 111 43 0.020 None 1.000 2 2012 2014
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 120 2 0.100 None 1.000 10 2005 2018
CUI: C0010200
Disease: Coughing
Coughing 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 129 9 0.010 None 1.000 1 2011 2011
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 137 21 0.070 None 1.000 7 1997 2019
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 152 6 0.060 None 1.000 6 1998 2014
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 152 12 0.010 None < 0.001 1 2019 2019