{ "bcoid": "GLY_000739", "title": "Human Germline Mutation Citations", "description": "The Human Germline Mutation Citations dataset contains details of the publications present in the Human ...", "filename": "human_protein_citations_mutation_germline.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Human Germline Mutation Citations", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "Q14696-1...", "Autosomal-Re..." ], [ "P49747-1...", "Novel types ..." ] ], "headers": [ "uniprotkb_ca...", "title..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "title" }, { "type": "string", "label": "journal_name" }, { "type": "string", "label": "publication_date" }, { "type": "string", "label": "authors" }, { "type": "string", "label": "xref_key" }, { "type": "string", "label": "xref_id" }, { "type": "string", "label": "src_xref_key" }, { "type": "string", "label": "src_xref_id" } ], [ "Q14696-1", "Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.", "American journal of human genetics", "2019 Oct 3", "Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmuller J, Nurnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C", "protein_xref_pubmed", "31564437", "protein_xref_dbsnp", "rs780491808rs780491808" ], [ "P49747-1", "Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.", "Human genetics", "2003 Jan", "Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S", "protein_xref_pubmed", "12483304", "protein_xref_dbsnp", "rs869320730rs869320730" ], [ "O43734-1", "CIKS/Act1-mediated signaling by IL-17 cytokines in context: implications for how a CIKS gene variant may predispose to psoriasis.", "Journal of immunology (Baltimore, Md. : 1950)", "2012 Jun 15", "Sonder SU, Paun A, Ha HL, Johnson PF, Siebenlist U", "protein_xref_pubmed", "22581863", "protein_xref_dbsnp", "rs33980500rs33980500" ], [ "Q93063-1", "Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.", "Human molecular genetics", "2019 Jul 1", "Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M", "protein_xref_pubmed", "30806661", "protein_xref_dbsnp", "rs745738318rs745738318" ], [ "O00476-1", "Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate.", "The Journal of biological chemistry", "2010 Nov 5", "Jutabha P, Anzai N, Kitamura K, Taniguchi A, Kaneko S, Yan K, Yamada H, Shimada H, Kimura T, Katada T, Fukutomi T, Tomita K, Urano W, Yamanaka H, Seki G, Fujita T, Moriyama Y, Yamada A, Uchida S, Wempe MF, Endou H, Sakurai H", "protein_xref_pubmed", "20810651", "protein_xref_dbsnp", "rs387907257rs387907257" ], [ "P68871-1", "Hb Camperdown [alpha 2 beta 2 104(G6)Arg-->Ser] identified by DNA analysis in a Brazilian family.", "Hemoglobin", "1996 May", "Miranda SR, Kimura EM, Teixeira RC, Bertuzzo CS, Ramalho AS, Saad ST, Costa FF", "protein_xref_pubmed", "8811319", "protein_xref_dbsnp", "rs33914944rs33914944" ], [ "P01008-1", "Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.", "FEBS letters", "1990 Jun 18", "Borg JY, Brennan SO, Carrell RW, George P, Perry DJ, Shaw J", "protein_xref_pubmed", "2365065", "protein_xref_dbsnp", "rs121909547rs121909547" ], [ "P69905-1", "Molecular characterization of Hb Val de Marne [alpha133(H16)Ser-->Arg; AGC-->AGA; (alpha2)] in a Chinese family.", "Hemoglobin", "2004 Aug", "Ma ES, Chan AY, Lee AC", "protein_xref_pubmed", "15481888", "protein_xref_dbsnp", "rs41514946rs41514946" ], [ "P21754-1", "A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.", "American journal of human genetics", "2017 Sep 7", "Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ", "protein_xref_pubmed", "28886344", "protein_xref_dbsnp", "rs1554625334rs1554625334" ], [ "P00740-1", "Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.", "American journal of human genetics", "1989 Sep", "Koeberl DD, Bottema CD, Buerstedde JM, Sommer SS", "protein_xref_pubmed", "2773937", "protein_xref_dbsnp", "rs137852251rs137852251" ], [ "Q13231-1", "Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.", "Human mutation", "2007 Sep", "Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ", "protein_xref_pubmed", "17464953", "protein_xref_dbsnp", "rs2297950rs2297950" ], [ "P00451-1", "Molecular etiology of factor VIII deficiency in hemophilia A.", "Human mutation", "1995", "Antonarakis SE, Kazazian HH, Tuddenham EG", "protein_xref_pubmed", "7728145", "protein_xref_dbsnp", "rs137852425rs137852425" ], [ "Q14643-1", "A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.", "American journal of medical genetics. Part A", "2017 Jan", "van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll-The BT", "protein_xref_pubmed", "27862915", "protein_xref_dbsnp", "rs1553758021rs1553758021" ], [ "P25189-1", "A novel MPZ gene mutation in congenital neuropathy with hypomyelination.", "Neurology", "2004 Jun 8", "Kochanski A, Drac H, Kabzinska D, Ryniewicz B, Rowinska-Marcinska K, Nowakowski A, Hausmanowa-Petrusewicz I", "protein_xref_pubmed", "15184631", "protein_xref_dbsnp", "rs121913595rs121913595" ], [ "O14773-1", "Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.", "Glycobiology", "2004 Apr", "Tsiakas K, Steinfeld R, Storch S, Ezaki J, Lukacs Z, Kominami E, Kohlschutter A, Ullrich K, Braulke T", "protein_xref_pubmed", "14736728", "protein_xref_dbsnp", "rs119455958rs119455958" ], [ "Q6X4W1-1", "Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).", "Journal of human genetics", "2004", "Miura K, Acierno JS Jr, Seminara SB", "protein_xref_pubmed", "15362570", "protein_xref_dbsnp", "rs121918340rs121918340" ], [ "P02768-1", "Alloalbuminemia in Sweden: structural study and phenotypic distribution of nine albumin variants.", "Proceedings of the National Academy of Sciences of the United States of America", "1992 Sep 1", "Carlson J, Sakamoto Y, Laurell CB, Madison J, Watkins S, Putnam FW", "protein_xref_pubmed", "1518850", "protein_xref_dbsnp", "rs78574148rs78574148" ], [ "P50213-1", "Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.", "Neurogenetics", "2017 Jan", "Fattal-Valevski A, Eliyahu H, Fraenkel ND, Elmaliach G, Hausman-Kedem M, Shaag A, Mandel D, Pines O, Elpeleg O", "protein_xref_pubmed", "28058510", "protein_xref_dbsnp", "rs756712426rs756712426" ], [ "P40200-1", "Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.", "American journal of human genetics", "2007 Oct", "Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K", "protein_xref_pubmed", "17847009", "protein_xref_dbsnp", "rs119477056rs119477056" ], [ "P06858-1", "A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.", "Biochemical and biophysical research communications", "1993 Mar 31", "Kobayashi J, Sasaki N, Tashiro J, Inadera H, Saito Y, Yoshida S", "protein_xref_pubmed", "8096693", "protein_xref_dbsnp", "rs118204071rs118204071" ], [ "O60938-1", "Mutations in KERA, encoding keratocan, cause cornea plana.", "Nature genetics", "2000 May", "Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A", "protein_xref_pubmed", "10802664", "protein_xref_dbsnp", "rs121917858rs121917858" ], [ "O60333-1", "The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.", "Genes & development", "2008 Apr 1", "Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr", "protein_xref_pubmed", "18334619", "protein_xref_dbsnp", "rs121908164rs121908164" ], [ "P08100-1", "Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.", "Human molecular genetics", "1993 Jun", "Kranich H, Bartkowski S, Denton MJ, Krey S, Dickinson P, Duvigneau C, Gal A", "protein_xref_pubmed", "8353500", "protein_xref_dbsnp", "rs104893786rs104893786" ], [ "P54803-1", "Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.", "Human mutation", "2010 Dec", "Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M", "protein_xref_pubmed", "20886637", "protein_xref_dbsnp", "rs387906952rs387906952" ], [ "O60494-1", "Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.", "The Journal of clinical investigation", "2020 Jan 2", "Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaude L, Tete MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schafer T, Pape L, Godel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Moriniere V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschke P, Ahluwalia TS, Kottgen A, Andersen CBF, Bergmann C, Antignac C, Simons M", "protein_xref_pubmed", "31613795", "protein_xref_dbsnp", "rs370778353rs370778353" ], [ "P05107-1", "A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.", "Biochemical and biophysical research communications", "1993 Jun 30", "Back AL, Kerkering M, Baker D, Bauer TR, Embree LJ, Hickstein DD", "protein_xref_pubmed", "7686755", "protein_xref_dbsnp", "rs137852616rs137852616" ], [ "Q96NT5-1", "Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.", "Molecular genetics and metabolism", "2011 May", "Shin DS, Mahadeo K, Min SH, Diop-Bove N, Clayton P, Zhao R, Goldman ID", "protein_xref_pubmed", "21333572", "protein_xref_dbsnp", "rs397515391rs397515391" ], [ "O75197-1", "Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.", "Proceedings of the National Academy of Sciences of the United States of America", "2014 Apr 8", "Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP", "protein_xref_pubmed", "24706814", "protein_xref_dbsnp", "rs724159827rs724159827" ], [ "Q9BYV8-1", "CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.", "Nature genetics", "2012 Jan 15", "Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attie-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG", "protein_xref_pubmed", "22246503", "protein_xref_dbsnp", "rs368178632rs368178632" ], [ "P02649-1", "Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia.", "American journal of human genetics", "1993 May", "van den Maagdenberg AM, Weng W, de Bruijn IH, de Knijff P, Funke H, Smelt AH, Gevers Leuven JA, van't Hooft FM, Assmann G, Hofker MH, et al.", "protein_xref_pubmed", "8488843", "protein_xref_dbsnp", "rs28931579rs28931579" ], [ "Q3T906-1", "Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.", "Human mutation", "2005 Oct", "Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK", "protein_xref_pubmed", "16116615", "protein_xref_dbsnp", "rs137852898rs137852898" ], [ "P01008-1", "Molecular genetics of human antithrombin deficiency.", "Human mutation", "1996", "Perry DJ, Carrell RW", "protein_xref_pubmed", "8664906", "protein_xref_dbsnp", "rs121909558rs121909558" ], [ "Q10471-1", "Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.", "Cell metabolism", "2016 Aug 9", "Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S, Noe E, Patel P, Ho SP, Kirchgessner TG, Wandall HH, Hansen L, Bennett EP, Vakhrushev SY, Saleheen D, Kathiresan S, Brown CD, Abou Jamra R, LeGuern E, Clausen H, Rader DJ", "protein_xref_pubmed", "27508872", "protein_xref_dbsnp", "rs1663960324rs1663960324" ], [ "P16112-1", "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.", "American journal of human genetics", "2009 Jan", "Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D", "protein_xref_pubmed", "19110214", "protein_xref_dbsnp", "rs121913568rs121913568" ], [ "P38571-1", "Intragenic deletion as a novel type of mutation in Wolman disease.", "Molecular genetics and metabolism", "2011 Dec", "Lee TM, Welsh M, Benhamed S, Chung WK", "protein_xref_pubmed", "21963785", "protein_xref_dbsnp", "rs762559980rs762559980" ], [ "O15146-1", "Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.", "European journal of human genetics : EJHG", "2015 Sep", "Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ", "protein_xref_pubmed", "25537362", "protein_xref_dbsnp", "rs751889864rs751889864" ], [ "Q07837-1", "Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.", "Clinical genetics", "2012 Jan", "Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML", "protein_xref_pubmed", "21255007", "protein_xref_dbsnp", "rs387907276rs387907276" ], [ "P04156-1", "Familial spongiform encephalopathy associated with a novel prion protein gene mutation.", "Annals of neurology", "1997 Aug", "Nitrini R, Rosemberg S, Passos-Bueno MR, da Silva LS, Iughetti P, Papadopoulos M, Carrilho PM, Caramelli P, Albrecht S, Zatz M, LeBlanc A", "protein_xref_pubmed", "9266722", "protein_xref_dbsnp", "rs74315411rs74315411" ], [ "P10619-1", "A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.", "The EMBO journal", "1991 Dec", "Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H, d'Azzo A", "protein_xref_pubmed", "1756715", "protein_xref_dbsnp", "rs137854548rs137854548" ], [ "O43734-1", "An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.", "Immunity", "2013 Oct 17", "Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, Belkadi A, Picard C, Abel L, Fieschi C, Puel A, Li X, Casanova JL", "protein_xref_pubmed", "24120361", "protein_xref_dbsnp", "rs33980500rs33980500" ], [ "P02768-1", "A circulating variant of human proalbumin.", "Nature", "1978 Aug 31", "Brennan SO, Carrell RW", "protein_xref_pubmed", "683332", "protein_xref_dbsnp", "rs78953271rs78953271" ], [ "O43734-1", "Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.", "Nature genetics", "2010 Nov", "Huffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K, Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Bohm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L, Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A", "protein_xref_pubmed", "20953186", "protein_xref_dbsnp", "rs33980500rs33980500" ], [ "P04921-1", "Erythrocyte Webb-type glycophorin C variant lacks N-glycosylation due to an asparagine to serine substitution.", "American journal of hematology", "1991 May", "Telen MJ, Le Van Kim C, Guizzo ML, Cartron JP, Colin Y", "protein_xref_pubmed", "1902622", "protein_xref_dbsnp", "rs121912760rs121912760" ], [ "P68871-1", "Characterization of a new electrophoretically silent hemoglobin variant. Hb saale OR alpha 2beta 2 84(EF8)Thr --> Ala.", "The Journal of biological chemistry", "2000 Jul 14", "Bisse E, Zorn N, Heinrichs I, Eigel A, Van Dorsselaer A, Wieland H, Kister J, Marden MC", "protein_xref_pubmed", "10770934", "protein_xref_dbsnp", "rs35960772rs35960772" ], [ "O95259-1", "Temple-Baraitser syndrome: a rare and possibly unrecognized condition.", "American journal of medical genetics. Part A", "2010 Sep", "Jacquinet A, Gerard M, Gabbett MT, Rausin L, Misson JP, Menten B, Mortier G, Van Maldergem L, Verloes A, Debray FG", "protein_xref_pubmed", "20683999", "protein_xref_dbsnp", "rs727502822rs727502822" ], [ "O75096-1", "Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.", "Clinical dysmorphology", "2003 Apr", "Temtamy SA, Ismail S, Nemat A", "protein_xref_pubmed", "12868467", "protein_xref_dbsnp", "rs267607222rs267607222" ], [ "Q8NAT1-1", "Milder forms of muscular dystrophy associated with POMGNT2 mutations.", "Neurology. Genetics", "2015 Dec", "Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I", "protein_xref_pubmed", "27066570", "protein_xref_dbsnp", "rs1559414655rs1559414655" ], [ "P04150-1", "Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene.", "The Journal of clinical endocrinology and metabolism", "1993 Mar", "Karl M, Lamberts SW, Detera-Wadleigh SD, Encio IJ, Stratakis CA, Hurley DM, Accili D, Chrousos GP", "protein_xref_pubmed", "8445027", "protein_xref_dbsnp", "rs104893909rs104893909" ], [ "O75581-1", "Rare nonconservative LRP6 mutations are associated with metabolic syndrome.", "Human mutation", "2013 Sep", "Singh R, Smith E, Fathzadeh M, Liu W, Go GW, Subrahmanyan L, Faramarzi S, McKenna W, Mani A", "protein_xref_pubmed", "23703864", "protein_xref_dbsnp", "rs397515473rs397515473" ], [ "P63261-1", "A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).", "Journal of medical genetics", "2003 Dec", "van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP, Kremer H", "protein_xref_pubmed", "14684684", "protein_xref_dbsnp", "rs28999112rs28999112" ], [ "O15055-1", "An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.", "Science (New York, N.Y.)", "2001 Feb 9", "Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptacek LJ, Fu YH", "protein_xref_pubmed", "11232563", "protein_xref_dbsnp", "rs121908635rs121908635" ], [ "O60500-1", "Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.", "Molecular cell", "1998 Mar", "Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K", "protein_xref_pubmed", "9660941", "protein_xref_dbsnp", "rs386833873rs386833873" ], [ "O60938-1", "Database for the mutations of the Finnish disease heritage.", "Human mutation", "2002 Jan", "Sipila K, Aula P", "protein_xref_pubmed", "11754099", "protein_xref_dbsnp", "rs121917858rs121917858" ], [ "P58418-3", "Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.", "Journal of medical genetics", "2003 Oct", "Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ", "protein_xref_pubmed", "14569126", "protein_xref_dbsnp", "rs111033258rs111033258" ], [ "P13866-1", "Membrane topology motifs in the SGLT cotransporter family.", "The Journal of membrane biology", "1997 Sep 1", "Turk E, Wright EM", "protein_xref_pubmed", "9309206", "protein_xref_dbsnp", "rs121912668rs121912668" ], [ "P04150-1", "Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking.", "The Journal of clinical endocrinology and metabolism", "2001 Nov", "Kino T, Stauber RH, Resau JH, Pavlakis GN, Chrousos GP", "protein_xref_pubmed", "11701741", "protein_xref_dbsnp", "rs104893909rs104893909" ], [ "P68871-1", "A new electrophoretically-silent hemoglobin variant: hemoglobin Kofu or alpha 2 beta 2 84 (EF8) Thr----Ile.", "Hemoglobin", "1986", "Harano T, Harano K, Ueda S, Imai N, Kitazumi T", "protein_xref_pubmed", "3744871", "protein_xref_dbsnp", "rs35914488rs35914488" ], [ "Q15046-1", "Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.", "Human mutation", "2017 Dec", "Zhou XL, He LX, Yu LJ, Wang Y, Wang XJ, Wang ED, Yang T", "protein_xref_pubmed", "28887846", "protein_xref_dbsnp", "rs1555512658rs1555512658" ], [ "O60333-1", "A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors.", "Human genetics", "2008 Oct", "Yeh IT, Lenci RE, Qin Y, Buddavarapu K, Ligon AH, Leteurtre E, Do Cao C, Cardot-Bauters C, Pigny P, Dahia PL", "protein_xref_pubmed", "18726616", "protein_xref_dbsnp", "rs121908164rs121908164" ], [ "Q9NYJ8-1", "Haploinsufficiency of TAB2 causes congenital heart defects in humans.", "American journal of human genetics", "2010 Jun 11", "Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Mollgard K, Tommerup N, Bache I, Tumer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA", "protein_xref_pubmed", "20493459", "protein_xref_dbsnp", "rs267607101rs267607101" ], [ "P23276-1", "Kell typing by allele-specific PCR (ASP).", "British journal of haematology", "1996 Jun", "Avent ND, Martin PG", "protein_xref_pubmed", "8652402", "protein_xref_dbsnp", "rs8176058rs8176058" ], [ "P23276-1", "Molecular basis of the Kell (K1) phenotype.", "Blood", "1995 Feb 15", "Lee S, Wu X, Reid M, Zelinski T, Redman C", "protein_xref_pubmed", "7849312", "protein_xref_dbsnp", "rs8176058rs8176058" ], [ "P02679-1", "A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi.", "The Journal of clinical investigation", "1989 May", "Yamazumi K, Shimura K, Terukina S, Takahashi N, Matsuda M", "protein_xref_pubmed", "2496144", "protein_xref_dbsnp", "rs121913091rs121913091" ], [ "O43734-1", "Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.", "Nature genetics", "2010 Nov", "Ellinghaus E, Ellinghaus D, Stuart PE, Nair RP, Debrus S, Raelson JV, Belouchi M, Fournier H, Reinhard C, Ding J, Li Y, Tejasvi T, Gudjonsson J, Stoll SW, Voorhees JJ, Lambert S, Weidinger S, Eberlein B, Kunz M, Rahman P, Gladman DD, Gieger C, Wichmann HE, Karlsen TH, Mayr G, Albrecht M, Kabelitz D, Mrowietz U, Abecasis GR, Elder JT, Schreiber S, Weichenthal M, Franke A", "protein_xref_pubmed", "20953188", "protein_xref_dbsnp", "rs33980500rs33980500" ], [ "P01008-1", "Familial overexpression of beta antithrombin caused by an Asn135Thr substitution.", "Blood", "1999 Jun 15", "Bayston TA, Tripodi A, Mannucci PM, Thompson E, Ireland H, Fitches AC, Hananeia L, Olds RJ, Lane DA", "protein_xref_pubmed", "10361121", "protein_xref_dbsnp", "rs121909570rs121909570" ], [ "P58418-3", "Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.", "American journal of human genetics", "2002 Sep", "Fields RR, Zhou G, Huang D, Davis JR, Moller C, Jacobson SG, Kimberling WJ, Sumegi J", "protein_xref_pubmed", "12145752", "protein_xref_dbsnp", "rs111033258rs111033258" ], [ "P01008-1", "New carbohydrate site in mutant antithrombin (7 Ile----Asn) with decreased heparin affinity.", "FEBS letters", "1988 Sep 12", "Brennan SO, Borg JY, George PM, Soria C, Soria J, Caen J, Carrell RW", "protein_xref_pubmed", "3169232", "protein_xref_dbsnp", "rs121909558rs121909558" ], [ "P17405-1", "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.", "Human mutation", "1992", "Takahashi T, Desnick RJ, Takada G, Schuchman EH", "protein_xref_pubmed", "1301192", "protein_xref_dbsnp", "rs120074123rs120074123" ], [ "P68871-1", "Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser----Phe, a mildly unstable hemoglobin variant.", "Hemoglobin", "1988", "Malcorra-Azpiazu JJ, Balda-Aguirre MI, Diaz-Chico JC, Hu H, Wilson JB, Webber BB, Kutlar F, Kutlar A, Huisman TH", "protein_xref_pubmed", "3384708", "protein_xref_dbsnp", "rs33960931rs33960931" ], [ "P06744-1", "Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia.", "Blood", "1996 Sep 15", "Kanno H, Fujii H, Hirono A, Ishida Y, Ohga S, Fukumoto Y, Matsuzawa K, Ogawa S, Miwa S", "protein_xref_pubmed", "8822954", "protein_xref_dbsnp", "rs137853585rs137853585" ], [ "P07196-1", "A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.", "American journal of medical genetics. Part A", "2006 May 1", "Leung CL, Nagan N, Graham TH, Liem RK", "protein_xref_pubmed", "16619203", "protein_xref_dbsnp", "rs58640772rs58640772" ], [ "Q8TAB3-1", "X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.", "Nature genetics", "2008 Jun", "Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gecz J", "protein_xref_pubmed", "18469813", "protein_xref_dbsnp", "rs1569314152rs1569314152" ], [ "P35555-1", "Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum.", "JAMA", "1989 Jul 28", "Glesby MJ, Pyeritz RE", "protein_xref_pubmed", "2739055", "protein_xref_dbsnp", "rs1131692049rs1131692049" ], [ "P35555-1", "Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.", "The Journal of clinical investigation", "1992 May", "Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR", "protein_xref_pubmed", "1569206", "protein_xref_dbsnp", "rs1131692049rs1131692049" ], [ "P04628-1", "Mutations in WNT1 are a cause of osteogenesis imperfecta.", "Journal of medical genetics", "2013 May", "Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F", "protein_xref_pubmed", "23434763", "protein_xref_dbsnp", "rs387907357rs387907357" ], [ "Q6X4W1-1", "Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.", "Proceedings of the National Academy of Sciences of the United States of America", "2011 Jul 12", "Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bulow HE", "protein_xref_pubmed", "21700882", "protein_xref_dbsnp", "rs121918340rs121918340" ], [ "P11362-1", "Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.", "American journal of medical genetics. Part A", "2006 Mar 1", "Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, Pitukcheewanont P, White KE", "protein_xref_pubmed", "16470795", "protein_xref_dbsnp", "rs121909632rs121909632" ], [ "Q9H488-1", "Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.", "American journal of human genetics", "2013 Jun 6", "Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z", "protein_xref_pubmed", "23684010", "protein_xref_dbsnp", "rs886041033rs886041033" ], [ "P01732-1", "Familial CD8 deficiency due to a mutation in the CD8 alpha gene.", "The Journal of clinical investigation", "2001 Jul", "de la Calle-Martin O, Hernandez M, Ordi J, Casamitjana N, Arostegui JI, Caragol I, Ferrando M, Labrador M, Rodriguez-Sanchez JL, Espanol T", "protein_xref_pubmed", "11435463", "protein_xref_dbsnp", "rs121918660rs121918660" ], [ "Q93063-1", "Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants.", "Clinical case reports", "2019 Apr", "Gupta A, Ewing SA, Renaud DL, Hasadsri L, Raymond KM, Klee EW, Gavrilova RH", "protein_xref_pubmed", "30997052", "protein_xref_dbsnp", "rs138722406rs138722406" ], [ "P50213-1", "Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.", "Ophthalmology", "2017 Jul", "Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM", "protein_xref_pubmed", "28412069", "protein_xref_dbsnp", "rs756712426rs756712426" ], [ "P01008-1", "CpG dinucleotides are `hotspots` for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction.", "Molecular biology & medicine", "1989 Jun", "Perry DJ, Carrell RW", "protein_xref_pubmed", "2615648", "protein_xref_dbsnp", "rs121909558rs121909558" ], [ "Q9NX62-1", "Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.", "American journal of human genetics", "2011 May 13", "Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafe L, Veltman JA, Zabel B, Superti-Furga A", "protein_xref_pubmed", "21549340", "protein_xref_dbsnp", "rs387907101rs387907101" ], [ "P68871-1", "Polycythaemia associated with homozygosity for the abnormal haemoglobin Sherwood Forest (beta 104 (G6)Arg-->Thr).", "British journal of haematology", "1994 Apr", "Williamson D, Beresford CH, Langdown JV, Anderson CC, Green AR", "protein_xref_pubmed", "7918091", "protein_xref_dbsnp", "rs33911434rs33911434" ] ] }, "readme": "Name\n - Human Germline Mutation Citations\n\nVersion\n - v-2.0.3\n\nCreated on\n - 2023-03-14T20:20:32.882Z\n\nModified on\n - 2023-03-14T20:24:42.068Z\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Robel Kahsay [rykahsay@gwu.edu]\n\nAuthors\n - \n\nChecksum\n - \n\nUsability Domain\n - The Human Germline Mutation Citations dataset contains details of the publications present in the Human Germline Mutation dataset (https://data.glygen.org/GLY_000459).\n\nDescription Domain\n Keywords\n - Publications\n - Citations\n - PubMed\n - germline mutations\n - single-nucleotide variations (nsSNVs)\n - dbSNP\n - ClinVar\n - disease\n\n Pipeline Steps\n - Step-1: The script extracts the PMID from the dataset and uses the Entrez API to retrieve the publication details and extracts in a csv dataset.\n\nExecution Domain\n Scripts - https://github.com/glygener/glygen-backend-integration/blob/master/dataset-maker/make-protein-dataset.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: human_protein_mutation_germline.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.0.3/reviewed/human_protein_mutation_germline.csv\n Output Subdomain\n Name: human_protein_citations_mutation_germline.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.0.3/reviewed/human_protein_citations_mutation_germline.csv\n Name: human_protein_citations_mutation_germline.stat.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.0.3/reviewed/human_protein_citations_mutation_germline.stat.csv\n\nFields\n Name: \"uniprotkb_canonical_ac\"\n Description: \"\"\n Unique Values: \"114\"\n Name: \"title\"\n Description: \"Title of the published article in the journal\"\n Unique Values: \"170\"\n Name: \"journal_name\"\n Description: \"The name of the journal in which the article is published\"\n Unique Values: \"58\"\n Name: \"publication_date\"\n Description: \"Contains the full date on which the issue of the journal was published. Sourced from MEDLINE/PubMed data element(fields) description.\"\n Unique Values: \"154\"\n Name: \"authors\"\n Description: \"NA\"\n Unique Values: \"169\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"1\"\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"170\"\n Name: \"src_xref_key\"\n Description: \"Source Xref key\"\n Unique Values: \"1\"\n Name: \"src_xref_id\"\n Description: \"Source X-ref ID\"\n Unique Values: \"130\"", "downloadurl": "/ln2data/releases/data/v-2.0.3/reviewed/human_protein_citations_mutation_germline.csv" }