KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
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: 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 23 0.930 None 1.000 16 23 2011 2020
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		disease Disease or Syndrome 1 19 0.610 None 1.000 13 19 2011 2017
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		disease Disease or Syndrome 1 37 0.700 strong 1.000 12 37 2011 2017
CUI: C1864929
Disease: Cerebellar atrophy, progressive
Cerebellar atrophy, progressive 		phenotype Finding 1 1 0.100 None 1.000 1 1 2016 2016
CUI: C1848735
Disease: Developmental delay, mild
Developmental delay, mild 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0085649
Disease: Peripheral edema
Peripheral edema 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function 3 0.100 None 0
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 28 0.400 None 0 1
CUI: C0151934
Disease: Hypogeusia
Hypogeusia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.100 None 0
CUI: C4025744
Disease: Foot acroosteolysis
Foot acroosteolysis 		phenotype Pathologic Function 6 0.100 None 0
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip 		disease Anatomical Abnormality 6 1 0.100 None 0
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.420 None 1.000 2 3 2016 2019
CUI: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphedema, microcephaly and chorioretinopathy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 23 0.010 None 1.000 1 2019 2019
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 8 9 0.110 None 1.000 1 2 2011 2011
CUI: C1837602
Disease: Painless fractures due to injury
Painless fractures due to injury 		phenotype Finding 8 0.100 None 0
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits 		phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration 		phenotype Finding 8 0.100 None 0
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0030578
Disease: Paronychia Inflammation
Paronychia Inflammation 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 1 0.100 None 0
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.010 None 1.000 1 2016 2016
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness 		phenotype Sign or Symptom 13 0.100 None 0
CUI: C0151572
Disease: Reflex, Corneal, Decreased
Reflex, Corneal, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 1 0.100 None 0
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		phenotype Finding 15 0.100 None 0
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: 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 0.010 None 1.000 1 2020 2020