Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10611
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Gene name
Gene Name - the full gene name approved by the HGNC.
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PDZ and LIM domain 5 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PDLIM5 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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ENH, ENH1, L9, LIM |
Chromosome
Chromosome number
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4 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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4q22.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 |
29212778 |
Lymphoblastic leukemia |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 View all (13 more) |
27114598 |
Prostate cancer |
Malignant neoplasm of prostate, Prostate carcinoma |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
19767753, 29892016 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
18021463, 16213469, 17287082, 24064681 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Unipolar Depression, Major Depressive Disorder |
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18197271, 23593136, 16595163, 16044170 |
ClinVar |
Nasopharyngeal carcinoma |
Nasopharyngeal carcinoma |
These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. |
20512145 |
ClinVar, CBGDA |
Uterine Fibroids |
Uterine Fibroids |
|
|
GWAS |
Lewy Body Disease |
Lewy Body Disease |
|
|
GWAS |
Myocardial Infarction |
Myocardial Infarction |
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|
GWAS |
Endometriosis |
Endometriosis |
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|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Bipolar Disorder |
Associate
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19448850, 23031404 |
Breast Neoplasms |
Associate
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12571245, 17211471, 17956604, 20461080, 24980827, 25982273, 27588391 |
Carcinoma Hepatocellular |
Associate
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20876702, 22897902 |
Carcinoma Non Small Cell Lung |
Associate
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36621614 |
Carcinoma Renal Cell |
Associate
|
24955835 |
Cardiomyopathy Dilated |
Associate
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31424159, 31880413 |
Chondrosarcoma |
Associate
|
35507100 |
Chordoma |
Associate
|
35507100 |
Colorectal Neoplasms |
Inhibit
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19307596 |
Colorectal Neoplasms |
Associate
|
27156963 |
Cytokine Release Syndrome |
Associate
|
39281206 |
Depressive Disorder Major |
Associate
|
24620999 |
Heart Defects Congenital |
Associate
|
39281206 |
Heart Diseases |
Associate
|
31880413 |
Hepatitis C |
Associate
|
32344996 |
Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
18419822 |
Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
24913448 |
Leukemia T Cell |
Associate
|
7957052 |
Lung Neoplasms |
Associate
|
23573233 |
Mouth Neoplasms |
Associate
|
24386158 |
Myofibrillar Myopathy |
Associate
|
27443559 |
Neoplasm Metastasis |
Associate
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27156963, 31793711, 34912481 |
Neoplasms |
Associate
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24386158, 26061439, 26773531, 28266596, 34912481 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
8078932 |
Prostatic Neoplasms |
Associate
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23573233, 24411283, 24980827, 26773531, 32665998, 35741800 |
Schizophrenia |
Associate
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31827227 |
Stomach Neoplasms |
Associate
|
27696291 |
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