Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8106
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Poly(A) binding protein nuclear 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PABPN1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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OPMD, PAB2, PABII, PABP-2, PABP2 |
Chromosome
Chromosome number
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14 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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14q11.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3` ends of eukaryotic transcripts and controls the size of t |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Myopathy |
Myopathy |
rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338 View all (81 more) |
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Oculopharyngeal muscular dystrophy |
Muscular Dystrophy, Oculopharyngeal, Oculopharyngeal muscular dystrophy |
rs193922941, rs1594987281 |
12823221, 25728001, 16239242 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Ptosis |
Blepharoptosis, Ptosis, Progressive ptosis |
|
|
ClinVar |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
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GWAS, CBGDA |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Alternating hemiplegia of childhood |
Associate
|
32929364 |
Breast Neoplasms |
Associate
|
32929364 |
Carcinogenesis |
Associate
|
32929364 |
Carcinoma Non Small Cell Lung |
Inhibit
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24975429 |
Deglutition Disorders |
Associate
|
24310666 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
16101680 |
Hepatoblastoma |
Associate
|
37478905 |
Mitochondrial Diseases |
Associate
|
27854203 |
Movement Disorders |
Associate
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33077830 |
Muscle Weakness |
Associate
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24310666, 24449978, 27854203, 36847015 |
Muscular Atrophy |
Associate
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33077830, 35245938 |
Muscular Dystrophy Oculopharyngeal |
Associate
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15377709, 16101680, 16648376, 17229142, 20184794, 21089175, 21647273, 21818414, 22898142, 24310666, 24449978, 25896913, 26267866, 27854203, 28011929, 30412104, 30455479, 31769567, 34225694, 36691350, 36847015, 37559347 View all (7 more) |
Neoplasm Metastasis |
Associate
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32929364 |
Neoplasm Metastasis |
Stimulate
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38244911 |
Neoplasms |
Associate
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24975429, 38244911 |
Oculopharyngodistal Myopathy |
Associate
|
15377709 |
Osteoarthritis |
Associate
|
32255771 |
Prostatic Neoplasms |
Associate
|
38244911 |
Ptosis Hereditary Congenital 2 |
Associate
|
24310666 |
Triple Negative Breast Neoplasms |
Associate
|
32929364 |
Uterine Cervical Neoplasms |
Associate
|
28080204 |
|