Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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84733
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Chromobox 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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CBX2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CDCA6, M33, SRXY5 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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SRXY5 |
Chromosome
Chromosome number
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17 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q25.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
46, xy sex reversal |
46, XY Sex Reversal 5 |
rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969, rs104894965, rs104894970, rs104894974, rs104894975, rs104894976, rs104894977, rs104894971, rs104894972, rs104894973, rs121918654, rs104894119, rs104894123, rs606231205, rs104894124, rs104894125, rs104894126, rs104894120, rs606231206, rs121918655, rs121918656, rs606231207, rs1131692053, rs387906788, rs606231252, rs200834568, rs863224904, rs775441984, rs867798393, rs886041049, rs1057517779, rs1057519638, rs1057519627, rs1131692186, rs1554721235, rs1554721883, rs1554034036, rs1556370556, rs1556370576, rs1556370548, rs1556370558, rs1565573786, rs1565572949, rs1480612338, rs1579750361, rs375469069, rs1603308308, rs1588618614, rs1588621944, rs1585684790, rs1954619788, rs1384892917, rs1954336272, rs1954346640, rs1954336215 View all (54 more) |
19361780 |
Hypogonadotropic hypogonadism |
Hypogonadotropic hypogonadism |
rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
46, XY Sex Reversal |
46,XY sex reversal 5 |
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|
GenCC |
46, XY complete gonadal dysgenesis |
46,XY complete gonadal dysgenesis |
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GenCC |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Breast Neoplasms |
Associate
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30820027, 33082469, 33400401, 38030604 |
Calcinosis Cutis |
Associate
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24885002 |
Carcinoma Hepatocellular |
Associate
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30481161, 31211140, 31321712, 34925377, 36133439, 36566204, 37980163, 39223584 |
Colorectal Neoplasms |
Associate
|
32323816 |
Death |
Associate
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31321712 |
Disorder of Sex Development 46 XY |
Associate
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29998616 |
Esophageal Squamous Cell Carcinoma |
Associate
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32576584 |
Glioblastoma |
Stimulate
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35210369 |
Hypospadias |
Associate
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29998616 |
Hypoxia |
Associate
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37481543 |
Infertility |
Associate
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31745224 |
Inflammation |
Associate
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24885002 |
Leukemia |
Associate
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29467492, 35681235 |
Leukemia Myeloid Acute |
Associate
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35681235 |
Lymphoma Large B Cell Diffuse |
Stimulate
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37430195 |
Melanoma Cutaneous Malignant |
Associate
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32860274 |
Neoplasm Metastasis |
Associate
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26877821, 33344640, 37980163 |
Neoplasms |
Associate
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24885002, 26877821, 27452673, 32576584, 32716971, 33344640, 34082692, 35681235, 37489460, 37777021, 37980163, 38030604, 39793896, 40565055 |
Neoplasms |
Stimulate
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29467492, 32860274, 33950564, 35210369 |
Pancreatic Neoplasms |
Associate
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33437202 |
Personality Disorders |
Associate
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38030604 |
Pituitary Neoplasms |
Associate
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31745224 |
Polycystic Ovary Syndrome |
Associate
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31745224 |
Precancerous Conditions |
Associate
|
33019382 |
Primary Ovarian Insufficiency |
Associate
|
31745224 |
Prostatic Neoplasms |
Associate
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26877821, 32366400, 33950564, 35119046, 35513262, 39175037 |
Prostatic Neoplasms Castration Resistant |
Stimulate
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26877821 |
Sex Chromosome Disorders of Sex Development |
Associate
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29998616 |
Squamous Cell Carcinoma of Head and Neck |
Associate
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32716971, 37777021 |
Stomach Diseases |
Associate
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40565055 |
Stomach Neoplasms |
Stimulate
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34117289, 35969177 |
Triple Negative Breast Neoplasms |
Associate
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40315569 |
Uterine Cervical Neoplasms |
Stimulate
|
39793896 |
|