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73 Possible Causes for STAP1

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  • Hypercholesterolemia

    CONCLUSIONS: We mapped a novel ADH locus at 4p13 and identified 4 variants in STAP1 that associate with ADH. 2014 American Heart Association, Inc.[ncbi.nlm.nih.gov] ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, CYP7A1, GCKR, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, MTTP, PCSK9, SAR1B, SCARB1, STAP1[genedx.com] […] kexin type 9 ; CELSR2 , cadherin, EGF LAG seven-pass G-type receptor 2 ; ABCG5 / 8 , ATP-binding cassette, sub-family G (WHITE), members 5 and 8 ; APOE , apolipoprotein E ; STAP1[clinchem.aaccjnls.org]

  • Ewing Family of Tumors

    Pfister , Gunhild Mechtersheimer , Uta Dirksen & Andreas von Deimling Modern Pathology (2018) High STAP1 expression in DUX4-rearranged cases is not suitable as therapeutic[dx.doi.org]

  • Familial Hyperlipidemia

    ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, CYP7A1, GCKR, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, MTTP, PCSK9, SAR1B, SCARB1, STAP1[genedx.com] Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. Circ Res. 2014;115(6):552–5.[jbiomedsci.biomedcentral.com] The latter include mutations in APOE [ 19 ], APOB [ 20 ], SREBP2 [ 21 ] and STAP1 [ 22 ]. Fig. 1 The LDLR pathway.[jbiomedsci.biomedcentral.com]

  • Mediterranean Macrothrombocytopenia

    LDLR, LIPA, APOE, ABCG5, ABCG8, PCSK9, LDLRAP1, APOB, STAP1 Specificity 23 % Genes 100 % SITOSTEROLEMIA.[mendelian.co] LDLR, LIPA, MTTP, APOE, ABCG5, ABCG8, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, LCAT, ABCA1, APOC3, LIPC, SLCO1B1, CYP7A1, LIPG, STAP1[mendelian.co]

  • Heterozygous Familial Hypercholesterolemia

    Mutations in stap1 are associated with autosomal dominant hypercholesterolemia. Circulation research 115 , 552–555 (2014). 41. Lamon-Fava, S., Diffenderfer, M.[nature.com] Recently, mutations in Signal-transducing adaptor protein 1 ( STAP1 ) gene have been reported in Dutch families who had the FH phenotype but were mutation-negative for the[nature.com]

  • Ewing's Sarcoma

    Pfister , Gunhild Mechtersheimer , Uta Dirksen & Andreas von Deimling Modern Pathology (2018) High STAP1 expression in DUX4-rearranged cases is not suitable as therapeutic[doi.org]

  • Familial Hypercholesterolemia

    METHODS: Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 63

    ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, CYP7A1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPG, LMF1, LPL, MTTP, MYLIP, PCSK9, SAR1B, SCARB1, SLCO1B1, STAP1[bredagenetics.com]

  • Lipoprotein Glomerulopathy

    LDLR, LIPA, APOE, ABCG5, ABCG8, PCSK9, LDLRAP1, APOB, STAP1 Specificity 12 % Genes 100 % Hypertriglyceridaemia genetic screen.[mendelian.co] LDLR, APOE, PCSK9, LDLRAP1, APOB, STAP1 Specificity 17 % Genes 100 % Early-onset autosomal dominant Alzheimer disease. By Bioarray in Spain.[mendelian.co] LDLR, LIPA, MTTP, APOE, ABCG5, ABCG8, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, LCAT, ABCA1, APOC3, LIPC, SLCO1B1, CYP7A1, LIPG, STAP1[mendelian.co]

  • Hairy Cell Leukemia

    Kees Hovingh , Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia , Circulation Research , 10.1161/CIRCRESAHA.115.304660 , 115 , 6 , (552-555)[doi.org]

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