MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
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: C1847896
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate A
Charcot-Marie-Tooth Disease, Dominant Intermediate A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1837552
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) 		disease Disease or Syndrome 3 2 0.010 None 1.000 1 2004 2004
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
Charcot-Marie-Tooth disease, Type 2I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 14 0.010 None 1.000 1 2004 2004
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 13 0.010 None 1.000 1 2020 2020
CUI: C1854150
Disease: Charcot-Marie-Tooth disease, Type 2B2
Charcot-Marie-Tooth disease, Type 2B2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2002 2002
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 15 0.010 None 1.000 1 2001 2001
CUI: C2079538
Disease: Charcot-Marie-Tooth disease, Type 2A
Charcot-Marie-Tooth disease, Type 2A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 3 0.030 None 1.000 3 1996 2011
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2010 2010
CUI: C1850386
Disease: GIANT AXONAL NEUROPATHY 1
GIANT AXONAL NEUROPATHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 20 0.010 None 1.000 1 2014 2014
CUI: C0751576
Disease: Partial Paralysis (Paresis) Vocal Cords
Partial Paralysis (Paresis) Vocal Cords 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 0.010 None 1.000 1 2011 2011
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy 		disease Disease or Syndrome 10 2 0.010 None 1.000 1 2003 2003
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
Congenital hypomyelinating neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 10 0.010 None 1.000 1 1 2004 2004
CUI: C0750403
Disease: Proximal weakness
Proximal weakness 		phenotype Sign or Symptom 11 2 0.010 None 1.000 1 2017 2017
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		disease Nervous System Diseases Disease or Syndrome 12 16 0.010 None 1.000 1 2007 2007
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 2007 2007
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		disease Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 1993 1993
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 10 0.020 None 1.000 2 2012 2018
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 16 8 0.010 None 1.000 1 1999 1999
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2008 2008
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 84 0.020 None 1.000 2 1992 1999
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 11 0.030 None 1.000 3 1997 2015
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.010 None 1.000 1 2018 2018
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 42 3 0.010 None 1.000 1 2020 2020
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.020 None 1.000 2 1992 1998
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.030 None 1.000 3 1992 2009