All individuals with variants in gene UBA1

39 entries on 1 page. Showing entries 1 - 39.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 10 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 9 1 Yu Sun
00037309 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037310 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037311 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037312 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00163650 - - Fetus, TOP 24th GW F no Germany - - 0 yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) 2 1 Florian Erger
00173414 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173415 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00173709 - - - - ? - - - 0 - - SMAX2 - 1 1 Alfons Meindl
00228899 - - - - no Italy - - 0 - - autism - 1 1 Gerarda Cappuccio
00295064 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 12 Mohammed Faruq
00305306 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 8 Mohammed Faruq
00315875 Pat1 PubMed: Beck 2020 - M - United States - - 0 - see paper ? relapsing polychonsritis; Sweet syndrome; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315876 Pat2 PubMed: Beck 2020 - M - United States - 61y 0 - see paper ? polyarteritis nodosa; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315877 Pat3 PubMed: Beck 2020 - M - United States - 76y 0 - see paper ? myelodysplastic syndrome; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315878 Pat4 PubMed: Beck 2020 - M - United States - 64y 0 - see paper ? relapsing polychonsritis; polyarteritis nodosa; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315879 Pat5 PubMed: Beck 2020 - M - United States - 60y 0 - see paper ? undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315880 Pat6 PubMed: Beck 2020 - M - United States - 67y 0 - see paper ? relapsing polychonsritis; Sweet syndrome; myelodysplastic syndrome; undifferentiated fever syndrome; adult-onset Still’s disease; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315881 Pat7 PubMed: Beck 2020 - M - - - 70y 0 - see paper ? Sweet syndrome; skin involvement; pulmonary infiltrates; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315882 Pat8 PubMed: Beck 2020 - M - - - 73y 0 - see paper ? relapsing polychonsritis; undifferentiated fever syndrome; pulmonary infiltrates; ear/nose chondritis; macrocytic anemia 1 1 Johan den Dunnen
00315883 Pat9 PubMed: Beck 2020 - M - - - 84y 0 - see paper ? polyarteritis nodosa; skin involvement; pulmonary infiltrates; bone marrow vacuoles 1 1 Johan den Dunnen
00315884 Pat10 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; Sweet syndrome; skin involvement; pulmonary infiltrates; ear/nose chondritis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315885 Pat11 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315886 Pat12 PubMed: Beck 2020 - M - - - 61y 0 - see paper ? undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315887 Pat13 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; Sweet syndrome; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; skin involvement; ear/nose chondritis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315888 Pat14 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; myelodysplastic syndrome; ; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315889 Pat15 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315890 Pat16 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; skin involvement; pulmonary infiltrates; ear/nose chondritis; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315891 Pat17 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; myelodysplastic syndrome; skin involvement; ear/nose chondritis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315892 Pat18 PubMed: Beck 2020 - M - - - - 0 - see paper ? skin involvement; ear/nose chondritis; macrocytic anemia 1 1 Johan den Dunnen
00315893 Pat19 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; Sweet syndrome; myelodysplastic syndrome; skin involvement; ear/nose chondritis; macrocytic anemia 1 1 Johan den Dunnen
00315894 Pat20 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; skin involvement; pulmonary infiltrates; ear/nose chondritis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00315895 Pat21 PubMed: Beck 2020 - M - - - - 0 - see paper ? Sweet syndrome; undifferentiated fever syndrome; skin involvement; pulmonary infiltrates; macrocytic anemia 1 1 Johan den Dunnen
00315896 Pat22 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; adult-onset Still’s disease; skin involvement; ear/nose chondritis; deep vein thrombosis; macrocytic anemia 1 1 Johan den Dunnen
00315897 Pat23 PubMed: Beck 2020 - M - - - - 0 - see paper ? relapsing polychonsritis; plasma cell dsycrasia multiple myeloma or monoclonal gamapathy of undetermined significance; undifferentiated fever syndrome; skin involvement; ear/nose chondritis; macrocytic anemia 1 1 Johan den Dunnen
00315898 Pat24 PubMed: Beck 2020 - M - - - - 0 - see paper ? Sweet syndrome; undifferentiated fever syndrome; skin involvement; macrocytic anemia 1 1 Johan den Dunnen
00315899 Pat25 PubMed: Beck 2020 - M - - - 78y 0 - see paper ? myelodysplastic syndrome; giant cell arteritis; pulmonary infiltrates; deep vein thrombosis; bone marrow vacuoles; macrocytic anemia 1 1 Johan den Dunnen
00392030 MDCRC/0802/DBI-712 MDCRC 2021, submitted - M yes India - - 0 yes - DMD - 1 1 Lakshmi Bremadesam
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