Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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219285
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Sterile alpha motif domain containing 9 like |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SAMD9L |
Synonyms (NCBI Gene)
Gene synonyms aliases
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ATXPC, C7DELq, C7orf6, DEL7q, DRIF2, M7MLS1, MLSM7, SCA49, UEF1 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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ATXPC, M7MLS1, SCA49 |
Chromosome
Chromosome number
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7 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7q21.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occ |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 View all (89 more) |
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Ataxia-pancytopenia syndrome |
Ataxia-pancytopenia syndrome |
rs878855336, rs878855337, rs1554341158, rs1554341277 |
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Microcephaly |
Microcephaly |
rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357 View all (280 more) |
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Myelomonocytic leukemia |
Acute myelomonocytic leukemia |
rs137854555, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641, rs199474747, rs199474728, rs199474781, rs587781807, rs727504426, rs786203950, rs786202782, rs1321848637, rs786202457, rs786204157, rs267606599, rs1555535032, rs864622161, rs878853865, rs199474737, rs199474742, rs1057518904, rs771820789, rs1057518974, rs1057518807, rs1057521098, rs1057521848, rs1060500273, rs376576925, rs1060500356, rs1060500363, rs1060500245, rs1060500387, rs1064794278, rs1085307819, rs753245823, rs1135402868, rs1135402894, rs1555610893, rs1555610881, rs771115661, rs1555614453, rs753529924, rs1555618572, rs1555534697, rs1555610905, rs1555613543, rs1131691105, rs1555534893, rs1060500376, rs1060500355, rs1567845945, rs1567817974, rs1567818033, rs1597713360, rs1555614462, rs137854553, rs1597831990, rs1597858459, rs1597858594, rs876657932, rs1597681200, rs1597866846, rs1597710409, rs2066138676, rs2066507116, rs2066874267, rs2066874810, rs1555614354, rs786202177, rs2069448326, rs2069793099, rs863224445 View all (68 more) |
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Neutropenia |
Neutropenia |
rs879253882 |
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Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Pancytopenia |
Pancytopenia |
rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Spinocerebellar Ataxia |
spinocerebellar ataxia 49 |
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GenCC |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Aicardi Goutieres syndrome |
Associate
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34417303 |
Anemia |
Associate
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34417303 |
Anemia Aplastic |
Associate
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36012751, 36499545, 38597819 |
Autoimmune enteropathy |
Associate
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31306780 |
Bone Marrow Failure Disorders |
Associate
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31306780, 38597819 |
Bone Marrow Neoplasms |
Associate
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38597819 |
Carcinoma Hepatocellular |
Associate
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25076857 |
Chromosome 7 monosomy |
Associate
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29146883, 29217778, 30046003, 32770553, 37584291 |
Condylomata Acuminata |
Associate
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35131475 |
Congenital Bone Marrow Failure Syndromes |
Associate
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29146883 |
COVID 19 |
Associate
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34920753 |
Cysts |
Associate
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31053103 |
Developmental Disabilities |
Associate
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35046037 |
Dilatation Pathologic |
Associate
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31053103 |
Drug Resistant Epilepsy |
Associate
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34621053 |
Fetal Growth Retardation |
Associate
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31306780 |
GATA2 Deficiency |
Associate
|
28202457 |
Genetic Diseases Inborn |
Associate
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33948933 |
Graves Disease |
Associate
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36012751 |
Hematologic Diseases |
Associate
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28202457, 31053103, 31306780 |
Hematologic Neoplasms |
Associate
|
27259050 |
Hemorrhage |
Associate
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31306780 |
Hepatitis B |
Associate
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25076857 |
Hereditary Autoinflammatory Diseases |
Associate
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33724365, 34417303 |
Hereditary renal agenesis |
Associate
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29146883, 38597819 |
Hypoadrenocorticism Familial |
Associate
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31306780 |
Immune System Diseases |
Associate
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33724365, 34621053, 36499545 |
Immunologic Deficiency Syndromes |
Associate
|
28202457 |
Infections |
Associate
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31306780, 33724365, 34417303 |
Inflammation |
Associate
|
34417303 |
Influenza Human |
Associate
|
31665046 |
Leukemia B Cell |
Associate
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33724365 |
Leukemia Myeloid |
Associate
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30046003 |
Leukemia Myeloid Acute |
Associate
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30046003, 31306780 |
Leukoencephalopathies |
Associate
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33948933 |
Melanoma |
Associate
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34032721 |
Melanoma Cutaneous Malignant |
Stimulate
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37426410 |
Mesothelioma |
Associate
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37556141 |
Monosomy 7 of Bone Marrow |
Associate
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29217778, 30046003, 36553623 |
Multiple System Atrophy |
Associate
|
30046003 |
Mycoses |
Associate
|
38597819 |
Myelocerebellar Disorder |
Associate
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27259050, 31053103, 31306780, 34417303, 36553623, 38594844 |
Myelodysplastic Syndromes |
Associate
|
28202457, 29217778, 30046003, 31306780, 32770553, 34621053, 35046037 |
Neoplasms |
Inhibit
|
19358830, 28202457, 35046037, 37158533, 37426410 |
Neoplasms |
Associate
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30046003, 33724365 |
Nervous System Diseases |
Associate
|
36553623 |
Neural Tube Defects |
Associate
|
31306780 |
Neurologic Manifestations |
Associate
|
28202457, 33948933 |
Neutrophilia Hereditary |
Associate
|
34417303 |
Obesity Morbid |
Associate
|
31306780 |
Panniculitis |
Associate
|
34417303 |
Peripheral Nervous System Diseases |
Associate
|
36553623 |
Polyradiculoneuropathy |
Associate
|
31053103 |
Respiratory Insufficiency |
Associate
|
33724365 |
Stomach Neoplasms |
Associate
|
37158533 |
Tuberculosis Pulmonary |
Associate
|
35720382 |
|