KIF2A, kinesin family member 2A, 3796

N. diseases: 81; N. variants: 29
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.050 None 1.000 5 2014 2018
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		disease Disease or Syndrome 2 4 0.700 strong 1.000 2 4 2013 2016
CUI: C1333978
Disease: Hepatitis C Virus-Related Hepatocellular Carcinoma
Hepatitis C Virus-Related Hepatocellular Carcinoma 		disease Neoplastic Process 18 1 0.010 None 1.000 1 2016 2016
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		disease Neoplastic Process 240 2 0.010 None 1.000 1 2017 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2015 2015
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype Finding 55 3 0.100 None 0 1
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		phenotype Finding 30 3 0.100 None 0 1
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 32 6 0.100 None 0 1
CUI: C3150613
Disease: Long toe
Long toe 		phenotype Finding 24 8 0.100 None 0 1
CUI: C4021167
Disease: Tapered toe
Tapered toe 		disease Anatomical Abnormality 4 1 0.100 None 0 1
CUI: C4023477
Disease: EEG with focal spike waves
EEG with focal spike waves 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		phenotype Finding 41 2 0.100 None 0 1
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		phenotype Finding 13 13 0.100 None 0 1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2017 2018
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2016 2016
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 100 54 0.010 None 1.000 1 2013 2013
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 86 163 0.010 None 1.000 1 2016 2016
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.010 None 1.000 1 2018 2018
CUI: C0920299
Disease: Overriding toe
Overriding toe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0 1
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.430 None 1.000 4 1 2013 2019
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 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 35 0.300 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 60 5 0.310 None 1.000 2 2013 2018