Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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84930
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Microtubule associated serine/threonine kinase like |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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MASTL |
Synonyms (NCBI Gene)
Gene synonyms aliases
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GREATWALL, GW, GWL, MAST-L, THC2 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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THC2 |
Chromosome
Chromosome number
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10 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10p12.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Severe Aplastic 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) |
22102272, 26136524 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Thrombocytopenia With Normal Platelets |
autosomal thrombocytopenia with normal platelets |
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GenCC |
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