Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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79026
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Gene name
Gene Name - the full gene name approved by the HGNC.
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AHNAK nucleoprotein |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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AHNAK |
Synonyms (NCBI Gene)
Gene synonyms aliases
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AHNAK1, AHNAKRS, PM227 |
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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11q12.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migrat |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Alzheimer`s Disease |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
26830138 |
Papillary renal carcinoma |
Papillary Renal Cell Carcinoma |
rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 |
22138691 |
Renal carcinoma |
Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney |
rs121913668, rs121913670, rs121913243, rs786202724 |
22138691 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chromophobe carcinoma |
Chromophobe Renal Cell Carcinoma |
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22138691 |
ClinVar |
Hypertrophic cardiomyopathy |
Hypertrophic cardiomyopathy |
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|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
30720096 |
Asthma |
Associate
|
22432035 |
Breast Neoplasms |
Associate
|
27374178 |
Carcinoma Hepatocellular |
Associate
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30259695, 35199873 |
Carcinoma Pancreatic Ductal |
Associate
|
40274200 |
Colorectal Neoplasms |
Associate
|
32319594 |
COVID 19 |
Associate
|
35885892 |
Glioblastoma |
Associate
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28035070, 39684695 |
Glioma |
Associate
|
35496054 |
Hepatitis B |
Associate
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30259695 |
Hepatitis B Chronic |
Associate
|
30259695 |
Hirschsprung Disease |
Associate
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26559152 |
Infections |
Associate
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37758692 |
Inflammation |
Associate
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38051912 |
Influenza Human |
Associate
|
37758692 |
Laryngeal Neoplasms |
Associate
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23409183 |
Liver Cirrhosis |
Associate
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30259695 |
Liver Diseases |
Associate
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30259695 |
Melanoma |
Inhibit
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26672724 |
Mesothelioma |
Associate
|
29334678 |
Mesothelioma Malignant |
Associate
|
29334678 |
Neoplasm Metastasis |
Associate
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31110158, 35199873 |
Neoplasm Metastasis |
Inhibit
|
34689136 |
Neoplasms |
Inhibit
|
1608957 |
Neoplasms |
Associate
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23409183, 26352260, 27374178, 29950347, 31110158, 33564071, 33961796, 39684695, 40274200 |
Neuroblastoma |
Associate
|
11535620 |
Neuroblastoma |
Inhibit
|
1608957, 8381120 |
Neuroendocrine Tumors |
Associate
|
36026497 |
Non Muscle Invasive Bladder Neoplasms |
Associate
|
33456631, 33465047 |
Ovarian Neoplasms |
Inhibit
|
34689136 |
Prostatic Neoplasms Castration Resistant |
Associate
|
31110158 |
Pulmonary Disease Chronic Obstructive |
Stimulate
|
38051912 |
Rhabdomyosarcoma |
Associate
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33564071 |
Spinocerebellar Ataxias |
Associate
|
30259695, 36713363 |
Thymoma |
Associate
|
27832160 |
Thyroid Cancer Papillary |
Associate
|
32065787 |
Urethral Diseases |
Associate
|
29950347 |
Urinary Bladder Neoplasms |
Associate
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29950347, 33048468, 33888644, 34329197, 34905506, 35958586, 36495164 |
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