KIF1A, kinesin family member 1A, 547

N. diseases: 52; N. variants: 3
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: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 1 0.930 None 1.000 3 1 2011 2020
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		disease Disease or Syndrome 1 0.610 None 1.000 1 2011 2017
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 3 0.420 None 1.000 2 2016 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 117 18 0.380 None 1.000 8 2012 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2650 714 0.310 None 1.000 1 2013 2018
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 1219 153 0.140 None 1.000 4 1 2014 2020
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 15 0.120 None 1.000 2 2011 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 104 21 0.120 None 1.000 2 2015 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 608 51 0.120 None 1.000 2 2015 2017
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.110 None 1.000 1 2011 2011
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 87 12 0.110 None 1.000 1 2014 2016
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 9 0.110 None 1.000 1 1 2014 2014
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 196 58 0.040 None 1.000 4 2012 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1480 85 0.030 None 1.000 3 2015 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 2010 2013
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 0.020 None 1.000 2 2016 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 545 37 0.020 None 1.000 2 2015 2017
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 477 75 0.020 None 0.500 2 2011 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 2010 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2010 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1018 256 0.020 None 1.000 2 1 2017 2018
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		disease Nervous System Diseases Disease or Syndrome 29 7 0.020 None 1.000 2 2015 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8577 1441 0.020 None 1.000 2 2010 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2469 234 0.020 None 1.000 2 2010 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.020 None 1.000 2 2000 2010