Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
23365
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Rho guanine nucleotide exchange factor 12 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ARHGEF12 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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LARG, PRO2792 |
Chromosome
Chromosome number
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11 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q23.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This pr |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 |
30104761 |
Glaucoma |
Glaucoma, Glaucoma, Open-Angle |
rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 View all (29 more) |
30054594, 29891935 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Hypertension |
Hypertension |
|
|
GWAS |
Breast cancer |
Breast cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Breast Neoplasms |
Associate
|
19734946 |
Cell Transformation Neoplastic |
Associate
|
30217930 |
Colorectal Neoplasms |
Associate
|
19734946, 26258642 |
Congenital Abnormalities |
Associate
|
33084842 |
Glaucoma |
Associate
|
25637523 |
Glaucoma Open Angle |
Associate
|
25637523, 38242088 |
Glioblastoma |
Associate
|
32693062 |
Glioma |
Associate
|
32693062 |
Heart Defects Congenital |
Associate
|
33084842 |
Heart Diseases |
Associate
|
26483157 |
Hypersensitivity Delayed |
Associate
|
33084842 |
Immunoglobulin Light chain Amyloidosis |
Associate
|
32922167 |
Intraocular Lymphoma |
Associate
|
25637523 |
Leukemia |
Associate
|
11373293, 32693062, 33419897 |
Leukemia Biphenotypic Acute |
Associate
|
11373293 |
Leukemia Myeloid Acute |
Associate
|
10681437, 11094164, 11373293, 19196702, 33419897 |
Leukemia T Cell |
Stimulate
|
17539775 |
Leukemia T Cell |
Associate
|
34304710 |
Low Tension Glaucoma |
Associate
|
25637523 |
Malformations of Cortical Development Group I |
Associate
|
23885121 |
Multiple Myeloma |
Associate
|
32922167 |
Neoplasms |
Associate
|
11373293, 26483157, 33084842, 35238908 |
Neoplasms |
Inhibit
|
19734946 |
Pituitary dwarfism 1 |
Associate
|
25485589 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
33419897 |
Prostatic Neoplasms |
Associate
|
21147910 |
Pulmonary Disease Chronic Obstructive |
Associate
|
34675500 |
Shwachman Diamond Syndrome |
Stimulate
|
17539775 |
|