KIF1B, kinesin family member 1B, 23095

N. diseases: 213; N. variants: 16
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: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.900 limited 1.000 2 1 2001 2015
CUI: C4020736
Disease: Elevated urinary homovanillic acid
Elevated urinary homovanillic acid 		phenotype Finding 1 0.100 None 0
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: C0000734
Disease: Abdominal mass
Abdominal mass 		phenotype Digestive System Diseases Finding 2 0.100 None 0
CUI: C0019937
Disease: Horner Syndrome
Horner Syndrome 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C4020735
Disease: Elevated urinary vanillylmandelic acid
Elevated urinary vanillylmandelic acid 		phenotype Finding 2 0.100 None 0
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: C4025619
Disease: Peripheral axonal atrophy
Peripheral axonal atrophy 		disease Disease or Syndrome 4 0.100 None 0
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: C0242567
Disease: Opsoclonus
Opsoclonus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
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 0.070 None 1.000 7 1996 2019
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 11 0.020 None 1.000 2 2006 2009
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2011 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: C0037287
Disease: Skin nodule
Skin nodule 		disease Neoplasms; Skin and Connective Tissue Diseases Pathologic Function 8 0.100 None 0
CUI: C1857175
Disease: Episodic hypertension
Episodic hypertension 		phenotype Cardiovascular Diseases Finding 8 0.100 None 0
CUI: C1968790
Disease: Axonal degeneration/regeneration
Axonal degeneration/regeneration 		phenotype Finding 8 0.100 None 0
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: C0221154
Disease: Paroxysmal hypertension
Paroxysmal hypertension 		disease Cardiovascular Diseases Disease or Syndrome 9 0.100 None 0
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