All individuals with variants in gene ABCG8

6 entries on 1 page. Showing entries 1 - 6.
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AscendingIndividual ID     

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Consanguinity     

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00292749 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00372400 STSL_P3 - - M no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744), Stomatocytosis unknown(?HP:0004446) 2 1 Wenjuan Qiu
00372401 STSL_P6 - - F no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),Splenomegaly(HP:0001744),Stomatocytosis unknown(?HP:0004446) 1 1 Wenjuan Qiu
00372402 STSL_P10 - - M no China Chinese - - - low-phytosterol diet and ezetimibe STSL Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia unknown(?HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),Chronic hemolytic anemia(HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744), Stomatocytosis unknown(?HP:0004446) 2 1 Wenjuan Qiu
00372404 STSL_P1 - - M no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744), No Stomatocytosis(-HP:0004446) 1 1 Wenjuan Qiu
00376449 STSL_P12 - - F no China Chinese - - - low-phytosterol diet STSL Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia(HP:0008158),No Chronic hemolytic anemia(-HP:0004870),No Stomatocytosis(-HP:0004446),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Splenomegaly(-HP:0001744),No Abnormality of the liver(-HP:0001392),No Thrombocytopenia(-HP:0001873) 1 1 Wenjuan Qiu
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