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: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.010 None 1.000 1 2014 2014
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: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy 		disease Disease or Syndrome 10 2 0.010 None 1.000 1 2003 2003
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2013 2013
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 94 12 0.010 None 1.000 1 2015 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: 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: C0750403
Disease: Proximal weakness
Proximal weakness 		phenotype Sign or Symptom 11 2 0.010 None 1.000 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2018 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2018 2018
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: 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: 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2001 2001
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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2007 2007
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: 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: 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: 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: 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: 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