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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3796
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Kinesin family member 2A |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
KIF2A |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
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CDCBM3, HK2, KIF2 |
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Chromosome
Chromosome number
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5 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5q12.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants en |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Cortical Dysplasia With Other Brain Malformations |
Complex cortical dysplasia with other brain malformations 3 |
rs1580059038, rs587777033, rs587777034, rs1554042050, rs1561273261 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Mental Depression |
Major depressive disorder |
N/A |
N/A |
GWAS |
| Microcephaly |
microcephaly |
N/A |
N/A |
ClinVar |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Alzheimer Disease |
Associate
|
33797837 |
| Ascites |
Associate
|
26937910 |
| Bone Marrow Diseases |
Stimulate
|
34792179 |
| Breast Neoplasms |
Associate
|
24950762, 35949045 |
| Carcinogenesis |
Associate
|
26070867 |
| Carcinoma Hepatocellular |
Associate
|
28901309 |
| Carcinoma Non Small Cell Lung |
Associate
|
31858647, 34024242 |
| Carcinoma Ovarian Epithelial |
Associate
|
26937910 |
| Ciliopathies |
Associate
|
35478224 |
| Colorectal Neoplasms |
Associate
|
26070867 |
| Hypoxia |
Associate
|
26323509 |
| Leukemia Biphenotypic Acute |
Associate
|
28633016 |
| Leukemia Myeloid Acute |
Associate
|
33331418, 34792179 |
| Lung Neoplasms |
Associate
|
24240690 |
| Lymphatic Metastasis |
Stimulate
|
24950762, 27773961, 31858647 |
| Lymphoma Large B Cell Diffuse |
Associate
|
28616658, 32976381 |
| Neoplasm Metastasis |
Associate
|
26937910, 32976381 |
| Neoplasms |
Associate
|
24950762, 25002494, 26070867, 28616658, 31858647, 32106376, 33064845, 34827689, 35949045 |
| Neoplasms |
Stimulate
|
35313389 |
| Ovarian Neoplasms |
Associate
|
30352438 |
| Stomach Neoplasms |
Associate
|
27773961, 35313389 |
| Stomach Neoplasms |
Stimulate
|
32106376 |
| Tertiary Lymphoid Structures |
Associate
|
26937910 |
|