Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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60312
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Actin filament associated protein 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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AFAP1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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AFAP, AFAP-110, AFAP110 |
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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4p16.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling prot |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
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, 30104761, 25173105, 29891935 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Biliary Atresia |
Biliary Atresia |
|
|
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 |
Adenocarcinoma |
Associate
|
23333711 |
Adenocarcinoma |
Stimulate
|
27577754 |
Adenocarcinoma of Lung |
Associate
|
35603556 |
Barrett Esophagus |
Associate
|
23333711 |
Breast Neoplasms |
Associate
|
29439313, 29458327, 32401758 |
Carcinogenesis |
Associate
|
27628540, 37686205 |
Carcinoma Hepatocellular |
Stimulate
|
27577754 |
Carcinoma Non Small Cell Lung |
Associate
|
30278439 |
Carcinoma Non Small Cell Lung |
Stimulate
|
30293090 |
Carcinoma Pancreatic Ductal |
Associate
|
27628540 |
Colorectal Neoplasms |
Stimulate
|
27577754 |
Colorectal Neoplasms |
Associate
|
35616307 |
Esophageal Squamous Cell Carcinoma |
Associate
|
26756568 |
Esophageal Squamous Cell Carcinoma |
Stimulate
|
27577754 |
Gastritis |
Associate
|
37249580 |
Glaucoma Open Angle |
Associate
|
25173105, 29452408, 30352225, 35741817 |
Glioma |
Associate
|
30178845, 36194351 |
Hirschsprung Disease |
Associate
|
32959905 |
Insulin Resistance |
Associate
|
34747338 |
Laryngeal Neoplasms |
Stimulate
|
29971915 |
Laryngeal Neoplasms |
Associate
|
35968243 |
Lung Neoplasms |
Stimulate
|
26245991 |
Lung Neoplasms |
Associate
|
30293090, 35603556 |
Lymphatic Metastasis |
Stimulate
|
26756568, 28975981, 32016968 |
Nasopharyngeal Carcinoma |
Stimulate
|
27577754 |
Nasopharyngeal Carcinoma |
Associate
|
28380458, 28467811 |
Neoplasm Metastasis |
Associate
|
26245991, 35616307 |
Neoplasm Metastasis |
Stimulate
|
26756568, 28380458, 31081081, 32051698 |
Neoplasm Metastasis |
Inhibit
|
29331858 |
Neoplasms |
Associate
|
23333711, 26245991, 29331858, 29439313, 29654169, 29971915, 30178845, 30293090, 35968243, 37686205 |
Neoplasms |
Stimulate
|
26756568, 27577754, 34334630, 35603556 |
Optic Nerve Diseases |
Stimulate
|
29654169 |
Osteosarcoma |
Associate
|
31002124 |
Ovarian Neoplasms |
Associate
|
28051261 |
Ovarian Neoplasms |
Stimulate
|
33926489 |
Pancreatic Neoplasms |
Associate
|
25910082 |
Prostatic Neoplasms |
Associate
|
31081081 |
Retinoblastoma |
Associate
|
29654169, 35193469 |
Stomach Neoplasms |
Stimulate
|
28975981, 32051698 |
Stomach Neoplasms |
Associate
|
30320481, 32016968 |
Thymoma |
Associate
|
34219124 |
Thyroid Neoplasms |
Stimulate
|
29331858 |
Triple Negative Breast Neoplasms |
Associate
|
32401758, 37686205 |
Urinary Bladder Neoplasms |
Associate
|
32964963 |
Uterine Cervical Neoplasms |
Associate
|
34334630 |
|