Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5873
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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RAB27A, member RAS oncogene family |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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RAB27A |
Synonyms (NCBI Gene)
Gene synonyms aliases
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GS2, HsT18676, RAB27, RAM |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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GS2 |
Chromosome
Chromosome number
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15 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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15q21.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscell |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Glioma |
Glioma |
rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701 View all (13 more) |
30714141 |
Griscelli syndrome |
GRISCELLI SYNDROME, TYPE 2, Griscelli syndrome type 2 |
rs119473031, rs28938176, rs1595695268, rs104894498, rs104894499, rs1595700039, rs104894500, rs764371254, rs786205551, rs786205641, rs767481076, rs753966933, rs200956636, rs1555394745, rs770601673, rs769021352, rs756071120, rs140470472, rs766575263 View all (4 more) |
10835631, 18397837, 15548590, 25544030, 12531900, 15163896, 12446441, 23160464, 19030707, 19953648, 16278825, 26880764, 25500851, 15475639, 25071262, 27016801 View all (1 more) |
Hyperlipidemia |
Hyperlipidemia |
rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075 |
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Neutropenia |
Neutropenia |
rs879253882 |
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Pancytopenia |
Pancytopenia |
rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820 |
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Piebaldism |
Piebaldism |
rs121913679, rs794726672, rs794726673, rs121913680, rs794726674, rs794726675, rs121913684, rs121913687, rs28933371, rs387907217, rs1560419312, rs1560418178 |
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Seizure |
Generalized seizures |
rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130 View all (179 more) |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Melanoma |
Melanoma |
SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. |
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GWAS, CBGDA |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acrocephalopolydactylous Dysplasia |
Associate
|
12058346 |
Adenocarcinoma |
Associate
|
36759514 |
Albinism |
Associate
|
35488210 |
Albinism Oculocutaneous |
Associate
|
25312756 |
Albuminuria |
Stimulate
|
32567349 |
Alzheimer Disease |
Stimulate
|
21669283 |
Breast Neoplasms |
Associate
|
18337447, 26178901, 34623384 |
Carcinoma Hepatocellular |
Associate
|
22553406, 26305877, 34777698, 36303180 |
Carcinoma Non Small Cell Lung |
Associate
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30480360, 35136028 |
Chediak Higashi Syndrome |
Associate
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19030707, 25425525 |
Choroideremia |
Associate
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15186776, 24358126 |
Cognition Disorders |
Stimulate
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21669283 |
Cognitive Dysfunction |
Stimulate
|
21669283 |
Colitis Ulcerative |
Associate
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37249278 |
Colorectal Neoplasms |
Associate
|
26070933, 26760980, 36371494 |
Cystic Fibrosis |
Associate
|
24934256 |
Death |
Associate
|
22553406 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
17724145 |
Endocrine System Diseases |
Associate
|
19212825 |
Fever |
Associate
|
35870028 |
Glioma |
Associate
|
23029308, 23553027, 24587032 |
Griscelli syndrome type 1 |
Associate
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11266474, 12058346, 15475639, 16551969, 18397837, 19030707, 21169636, 21314004, 25312756, 39807742 |
Griscelli syndrome type 2 |
Associate
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19030707, 19704116, 20591709, 21169636, 21314004, 24587032, 25312756, 33985578, 34058999, 35870028, 36206192, 37368332, 37388727 |
Griscelli syndrome type 3 |
Associate
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18397837 |
Hemophagocytic lymphohistiocytosis familial 3 |
Associate
|
19704116 |
Hepatitis C |
Associate
|
26305877 |
Hypereosinophilic Syndrome |
Associate
|
39679991 |
Hypopigmentation |
Associate
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36243938, 37388727 |
Immune System Diseases |
Associate
|
12058346 |
Immune System Diseases |
Inhibit
|
37388727 |
Immunologic Deficiency Syndromes |
Associate
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19704116, 21169636, 37388727 |
Inflammation |
Associate
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18832576, 31824480, 39679991 |
Limb girdle muscular dystrophy type 2B |
Associate
|
18832576 |
Lupus Erythematosus Systemic |
Associate
|
34084162 |
Lymphatic Metastasis |
Associate
|
26070933, 35985682 |
Lymphatic Metastasis |
Inhibit
|
26760980 |
Lymphohistiocytosis Hemophagocytic |
Associate
|
12058346, 17255357, 18311812, 21169636, 24916509, 25312756, 26880764, 28270454, 32542393, 34058999, 35870028, 37388727 |
Lymphoma |
Associate
|
37388727 |
Melanoma |
Associate
|
21129771, 22948084, 23884313, 39596498, 40038749 |
Muscular dystrophy congenital with central nervous system involvement |
Associate
|
12058346 |
Neoplasm Metastasis |
Associate
|
18337447, 26760980, 30480360 |
Neoplasms |
Associate
|
21129771, 22553406, 26070933, 26760980, 28546229, 30480360, 36371494, 37248891, 37685910, 39596498, 40038749 |
Nervous System Diseases |
Associate
|
20591709 |
Peritonitis |
Associate
|
36581340 |
Pigmentation Disorders |
Associate
|
25312756 |
Primary Immunodeficiency Diseases |
Associate
|
38644452 |
Prostatitis |
Associate
|
18413239 |
Proteinuria |
Associate
|
26420894 |
Renal Insufficiency Chronic |
Associate
|
26420894 |
Rhinitis Allergic |
Associate
|
39679991 |
Sarcoma Alveolar Soft Part |
Associate
|
37029109 |
Squamous Cell Carcinoma of Head and Neck |
Stimulate
|
37685910 |
Status Asthmaticus |
Associate
|
25431337 |
Stomach Neoplasms |
Associate
|
28546229, 35985682 |
Urinary Bladder Neoplasms |
Associate
|
22724020 |
|