KIF2A, kinesin family member 2A, 3796

N. diseases: 81; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.010 Biomarker group BEFREE Altogether, our data suggest that deregulation of the coupling between ciliogenesis and cell cycle might contribute to the pathogenesis of KIF2A-related brain malformations. 29077851 2018
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease HPO
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 Biomarker disease CTD_human
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 Biomarker disease GENOMICS_ENGLAND A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. 27896282 2016
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 CausalMutation disease CLINVAR
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 GeneticVariation disease UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 GeneticVariation disease CLINVAR
CUI: C0302142
Disease: Deformity
Deformity 		0.010 GeneticVariation group BEFREE Recently, KIF2A mutations were identified in cortical malformation syndromes associated with microcephaly. 27747449 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 AlteredExpression disease BEFREE Taken together, these data provide the first evidence that increased KIF2A expression predicts poor prognosis in patients with DLBCL, and a rationale for treatment of DLBCL by targeting KIF2A. 28616658 2017
CUI: C4023477
Disease: EEG with focal spike waves
EEG with focal spike waves 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 Biomarker disease BEFREE Multivariate analysis of variance revealed that overexpression of KIF2A was an independent prognostic factor for OS.These findings indicate the important role of KIF2A in predicting EOC prognosis. 26937910 2016
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0017638
Disease: Glioma
Glioma 		0.020 Biomarker disease BEFREE The present data suggested that KIF2A may be important in glioma progression and may serve as a novel predictive factor and therapeutic target for glioma. 26707290 2016
CUI: C0017638
Disease: Glioma
Glioma 		0.020 PosttranslationalModification disease BEFREE Nodal protein expression was shown to be correlated with expression levels of glucose transporter (Glut)-1, hexokinase (HK)-II, pyruvate dehydrogenase kinase (PDK)-1, the phosphorylation level of pyruvate dehydrogenase (PDH), glucose uptake, and lactate accumulation in human glioma cells. 23911596 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C0018081
Disease: Gonorrhea
Gonorrhea 		0.010 AlteredExpression disease BEFREE In this study, we aimed to evaluate the expression of KIF2A and its robustness and potential to predict clinical outcomes in gastric cancer (GC) patients. 27773961 2016
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 AlteredExpression disease BEFREE Roles of GLUT-1 and HK-II expression in the biological behavior of head and neck cancer. 31105886 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 AlteredExpression disease BEFREE Differential association of STAT3 and HK-II expression in hepatitis B virus- and hepatitis C virus-related hepatocellular carcinoma. 26889748 2016
CUI: C1333978
Disease: Hepatitis C Virus-Related Hepatocellular Carcinoma
Hepatitis C Virus-Related Hepatocellular Carcinoma 		0.010 AlteredExpression disease BEFREE Differential association of STAT3 and HK-II expression in hepatitis B virus- and hepatitis C virus-related hepatocellular carcinoma. 26889748 2016
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		0.100 GeneticVariation phenotype CLINVAR