KIF5C, kinesin family member 5C, 3800

N. diseases: 6; N. variants: 2
Source: CURATED ×
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: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		disease Disease or Syndrome 1 2 0.700 None 1.000 4 2 2012 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 67 0.400 None 1.000 1 2013 2013
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 14 5 0.400 None 1.000 1 2013 2013
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 3 0.300 None 1.000 1 2013 2013
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 0.300 None 1.000 1 2013 2013
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 31 0.300 None 1.000 1 2013 2013