{ "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" ], "tag": [ "Human Germline Mutation Citations" ], "file_type": [ "csv" ], "status": [ "Reviewed" ], "scope": [ "internal" ] }, "minitable": { "content": [ [ "P04150-1...", "Pathologic h..." ], [ "P01008-1...", "Familial ove..." ] ], "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" } ], [ "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", "rs104893909" ], [ "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", "rs121909570" ], [ "P01229-1", "Luteinizing hormone and different genetic variants, as indicators of frailty in healthy elderly men.", "The Journal of clinical endocrinology and metabolism", "1999 Apr", "van den Beld A, Huhtaniemi IT, Pettersson KS, Pols HA, Grobbee DE, de Jong FH, Lamberts SW", "protein_xref_pubmed", "10199775", "protein_xref_dbsnp", "rs34349826" ], [ "P14679-1", "Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.", "American journal of human genetics", "1991 Jul", "Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA", "protein_xref_pubmed", "1905879", "protein_xref_dbsnp", "rs61754388" ], [ "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", "rs2297950" ], [ "P16278-1", "Biological roles of the non-integrin elastin/laminin receptor.", "Biological chemistry", "1996 Jul-Aug", "Hinek A", "protein_xref_pubmed", "8922281", "protein_xref_dbsnp", "rs72555368" ], [ "O75015-1", "Characterization of polymorphic forms of Fc receptor III on human neutrophils.", "The Journal of clinical investigation", "1989 May", "Ory PA, Goldstein IM, Kwoh EE, Clarkson SB", "protein_xref_pubmed", "2523415", "protein_xref_dbsnp", "rs448740" ], [ "O43379-1", "WDR62 is associated with the spindle pole and is mutated in human microcephaly.", "Nature genetics", "2010 Nov", "Nicholas AK, Khurshid M, Desir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG", "protein_xref_pubmed", "20890279", "protein_xref_dbsnp", "rs387907083" ], [ "Q9Y6N7-1", "Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.", "Clinical genetics", "2018 Apr", "Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshoj TD, Olsen TE, Tabor A, Hertz JM, Johnsen I, Sperling L, Petersen OB, Jensen UB, Moller FG, Petersen MB, Lildballe DL", "protein_xref_pubmed", "29194579", "protein_xref_dbsnp", "rs2082671645" ], [ "P04921-1", "The Webb (Wb) antigen in South Wales donors.", "Human heredity", "1986", "Bloomfield L, Rowe GP, Green C", "protein_xref_pubmed", "3539763", "protein_xref_dbsnp", "rs121912760" ], [ "P68871-1", "Hb Camperdown or alpha 2 beta 2(104)(G6)Arg----Ser in two Italian males.", "Hemoglobin", "1990", "Zhao W, Wilson JB, Huisman TH, Sciarratta GV, Ivaldi G, Petrini C, Ripamonti M", "protein_xref_pubmed", "2283301", "protein_xref_dbsnp", "rs33914944" ], [ "P40763-1", "Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.", "Nature genetics", "2014 Aug", "Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppanen M, Lernmark A, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT", "protein_xref_pubmed", "25038750", "protein_xref_dbsnp", "rs869312892" ], [ "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", "rs121908635" ], [ "O60687-1", "Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.", "Brain : a journal of neurology", "2013-08", "Salmi Manal, Bruneau Nadine, Cillario Jennifer, Lozovaya Natalia, Massacrier Annick, Buhler Emmanuelle, Cloarec Robin, Tsintsadze Timur, Watrin Fran\u00e7oise, Tsintsadze Vera, Zimmer C\u00e9line, Villard Claude, Lafitte Daniel, Cardoso Carlos, Bao Lan, Lesca Gaetan, Rudolf Gabrielle, Muscatelli Fran\u00e7oise, Pauly Vanessa, Khalilov Ilgam, Durbec Pascale, Ben-Ari Yehezkel, Burnashev Nail, Represa Alfonso, Szepetowski Pierre", "protein_xref_pubmed", "23831613", "protein_xref_dbsnp", "rs121918363" ], [ "Q5HYA8-1", "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.", "Nature genetics", "2008 Apr", "Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N", "protein_xref_pubmed", "18327255", "protein_xref_dbsnp", "rs111619594" ], [ "P02656-1", "Unusual familial lipoprotein C-III associated with apolipoprotein C-III-O preponderance.", "Biochimica et biophysica acta", "1981 Sep 24", "Maeda H, Uzawa H, Kamei R", "protein_xref_pubmed", "7295752", "protein_xref_dbsnp", "rs121918381" ], [ "P69905-1", "Hb Douala [alpha3(A1)Ser --> Phe]: a new alpha1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia.", "Hemoglobin", "2001 Aug", "Prehu C, Hanichi A, Yapo AP, Claparols C, Prome D, Riou J, Wajcman H", "protein_xref_pubmed", "11570726", "protein_xref_dbsnp", "rs35850071" ], [ "P00748-1", "Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.", "The Journal of allergy and clinical immunology", "2009 Apr", "Duan QL, Binkley K, Rouleau GA", "protein_xref_pubmed", "19178938", "protein_xref_dbsnp", "rs118204456" ], [ "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", "rs8176058" ], [ "P68871-1", "Haemoglobin Sherwood Forest beta104 (G6) Arg replaced by Thr.", "FEBS letters", "1977 Nov 15", "Ryrie DR, Plowman D, Lehmann H", "protein_xref_pubmed", "590504", "protein_xref_dbsnp", "rs33911434" ], [ "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", "rs121912668" ], [ "P13866-1", "Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.", "Nature", "1991 Mar 28", "Turk E, Zabel B, Mundlos S, Dyer J, Wright EM", "protein_xref_pubmed", "2008213", "protein_xref_dbsnp", "rs121912668" ], [ "Q5K651-1", "SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.", "Nature genetics", "2016 Jul", "Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T", "protein_xref_pubmed", "27182967", "protein_xref_dbsnp", "rs1584253343" ], [ "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", "rs74315411" ], [ "Q96G97-2", "Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.", "Muscle & nerve", "2013 Jun", "Chaudhry R, Kidambi A, Brewer MH, Antonellis A, Mathews K, Nicholson G, Kennerson M", "protein_xref_pubmed", "23553728", "protein_xref_dbsnp", "rs137852972" ], [ "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", "rs33911434" ], [ "Q13315-1", "Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.", "Scientific reports", "2019 Dec 27", "Jarhelle E, Riise Stensland HMF, Hansen GAM, Skarsfjord S, Jonsrud C, Ingebrigtsen M, Stromsvik N, Van Ghelue M", "protein_xref_pubmed", "31882575", "protein_xref_dbsnp", "rs3218708" ], [ "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", "rs111033258" ], [ "P68871-1", "Haemoglobin Rahere (beta Lys-Thr): A new high affinity haemoglobin associated with decreased 2, 3-diphosphoglycerate binding and relative polycythaemia.", "British medical journal", "1975 Oct 25", "Lorkin PA, Stephens AD, Beard ME, Wrigley PF, Adams L, Lehmann H", "protein_xref_pubmed", "124", "protein_xref_dbsnp", "rs33987903" ], [ "P11532-1", "Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.", "Human mutation", "1994", "Roberts RG, Gardner RJ, Bobrow M", "protein_xref_pubmed", "7951253", "protein_xref_dbsnp", "rs128626237" ], [ "Q96G97-2", "Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.", "American journal of human genetics", "1991 Jun", "Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C", "protein_xref_pubmed", "1674639", "protein_xref_dbsnp", "rs137852972" ], [ "P01229-1", "Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants.", "The Journal of clinical endocrinology and metabolism", "1994 Jan", "Furui K, Suganuma N, Tsukahara S, Asada Y, Kikkawa F, Tanaka M, Ozawa T, Tomoda Y", "protein_xref_pubmed", "7904610", "protein_xref_dbsnp", "rs34349826" ], [ "P37231-1", "Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy.", "The Journal of clinical endocrinology and metabolism", "2007 Jun", "Ludtke A, Buettner J, Wu W, Muchir A, Schroeter A, Zinn-Justin S, Spuler S, Schmidt HH, Worman HJ", "protein_xref_pubmed", "17356052", "protein_xref_dbsnp", "rs121909245" ], [ "P23942-1", "Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.", "Nature", "1991 Dec 12", "Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP", "protein_xref_pubmed", "1684223", "protein_xref_dbsnp", "rs61755806" ], [ "O43462-1", "IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.", "American journal of human genetics", "2009 Apr", "Oeffner F, Fischer G, Happle R, Konig A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casano A, Weirich C, Grzeschik KH", "protein_xref_pubmed", "19361614", "protein_xref_dbsnp", "rs122468179" ], [ "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", "rs121913091" ], [ "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", "rs386833873" ], [ "P68871-1", "Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.", "Blood", "1992 Jun 1", "Kazazian HH Jr, Dowling CE, Hurwitz RL, Coleman M, Stopeck A, Adams JG 3rd", "protein_xref_pubmed", "1586746", "protein_xref_dbsnp", "rs1554917888" ], [ "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", "rs1663960324" ], [ "O95259-1", "Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.", "Nature genetics", "2015 Jan", "Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ", "protein_xref_pubmed", "25420144", "protein_xref_dbsnp", "rs727502822" ], [ "Q04837-1", "SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.", "Annals of neurology", "2019 Sep", "Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nurnberg G, Altmuller J, Thiele H, Motameny S, Toliat MR, Powell K, Hohne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nurnberg P, Yu-Wai-Man P, Votruba M", "protein_xref_pubmed", "31298765", "protein_xref_dbsnp", "rs1799915649" ], [ "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", "rs120074123" ], [ "O94886-1", "Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.", "American journal of human genetics", "2019 Nov 7", "Yan H, Helman G, Murthy SE, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs A, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap MS, Patapoutian A, Simons C, Burmeister M, Wang J, Wolf NI", "protein_xref_pubmed", "31587869", "protein_xref_dbsnp", "rs1576080546" ], [ "Q96G97-2", "Familial spastic paraplegia with amyotrophy of the hands.", "Annals of human genetics", "1966 Jul", "Silver JR", "protein_xref_pubmed", "5964029", "protein_xref_dbsnp", "rs137852972" ], [ "Q9UBX5-1", "Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs.", "American journal of medical genetics", "1988-10", "Van Maldergem L, Vamos E, Liebaers I, Petit P, Vandevelde G, Simonis-Blumenfrucht A, Bouffioux R, Kulakowski S, Hanquinet S, Van Durme P", "protein_xref_pubmed", "3232707", "protein_xref_dbsnp", "rs28939370" ], [ "P07225-1", "Familial protein S deficiency with a variant protein S molecule in plasma and platelets.", "Blood", "1989 Jul", "Schwarz HP, Heeb MJ, Lottenberg R, Roberts H, Griffin JH", "protein_xref_pubmed", "2526663", "protein_xref_dbsnp", "rs121918472" ], [ "P00441-1", "Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.", "Annals of neurology", "2001 Feb", "Hand CK, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau GA", "protein_xref_pubmed", "11220750", "protein_xref_dbsnp", "rs121912459" ], [ "P17661-1", "Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.", "European journal of human genetics : EJHG", "2012 Sep", "Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A", "protein_xref_pubmed", "22395865", "protein_xref_dbsnp", "rs62635763" ], [ "P25189-1", "Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.", "Human mutation", "1998", "Schiavon F, Rampazzo A, Merlini L, Angelini C, Mostacciuolo ML", "protein_xref_pubmed", "9452091", "protein_xref_dbsnp", "rs121913595" ], [ "O14773-1", "Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.", "American journal of medical genetics", "2002 Nov 1", "Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschutter A", "protein_xref_pubmed", "12376936", "protein_xref_dbsnp", "rs119455958" ], [ "Q9P2K1-4", "CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.", "American journal of human genetics", "2008 Nov", "Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topcu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D", "protein_xref_pubmed", "18950740", "protein_xref_dbsnp", "rs118204051" ], [ "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", "rs727502822" ], [ "P25189-1", "An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).", "Journal of neurology, neurosurgery, and psychiatry", "2000 Dec", "Misu K, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, Hirayama M, Takegami T, Nakashima K, Sobue G", "protein_xref_pubmed", "11080237", "protein_xref_dbsnp", "rs121913595" ], [ "P69905-1", "Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant.", "Hemoglobin", "1993 Oct", "Wajcman H, Kalmes G, Groff P, Prome D, Riou J, Galacteros F", "protein_xref_pubmed", "8294199", "protein_xref_dbsnp", "rs41514946" ], [ "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", "rs33980500" ], [ "Q71U36-1", "Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).", "Human mutation", "2007 Nov", "Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J", "protein_xref_pubmed", "17584854", "protein_xref_dbsnp", "rs137853047" ], [ "P49959-1", "hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.", "Human molecular genetics", "2001-05-15", "Pitts S A, Kullar H S, Stankovic T, Stewart G S, Last J I, Bedenham T, Armstrong S J, Piane M, Chessa L, Taylor A M, Byrd P J", "protein_xref_pubmed", "11371508", "protein_xref_dbsnp", "rs137852760" ], [ "P07225-1", "Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460.", "Blood", "1990 Aug 1", "Bertina RM, Ploos van Amstel HK, van Wijngaarden A, Coenen J, Leemhuis MP, Deutz-Terlouw PP, van der Linden IK, Reitsma PH", "protein_xref_pubmed", "2143091", "protein_xref_dbsnp", "rs121918472" ], [ "P12883-1", "A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.", "Human genetics", "1998 Mar", "Jeschke B, Uhl K, Weist B, Schroder D, Meitinger T, Dohlemann C, Vosberg HP", "protein_xref_pubmed", "9544842", "protein_xref_dbsnp", "rs121913640" ], [ "P22607-1", "Mutations in different components of FGF signaling in LADD syndrome.", "Nature genetics", "2006 Apr", "Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B", "protein_xref_pubmed", "16501574", "protein_xref_dbsnp", "rs121913112" ], [ "O15072-1", "Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.", "Human molecular genetics", "2017 Nov 1", "Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M", "protein_xref_pubmed", "28985353", "protein_xref_dbsnp", "rs61757480" ], [ "P01008-1", "Molecular genetics of human antithrombin deficiency.", "Human mutation", "1996", "Perry DJ, Carrell RW", "protein_xref_pubmed", "8664906", "protein_xref_dbsnp", "rs121909558" ], [ "P01229-1", "An immunologically anomalous luteinizing hormone variant in a healthy woman.", "The Journal of clinical endocrinology and metabolism", "1992 Jan", "Pettersson K, Ding YQ, Huhtaniemi I", "protein_xref_pubmed", "1727817", "protein_xref_dbsnp", "rs34349826" ], [ "P09758-1", "Identification of the gene responsible for gelatinous drop-like corneal dystrophy.", "Nature genetics", "1999 Apr", "Tsujikawa M, Kurahashi H, Tanaka T, Nishida K, Shimomura Y, Tano Y, Nakamura Y", "protein_xref_pubmed", "10192395", "protein_xref_dbsnp", "rs80358225" ], [ "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", "rs387907101" ], [ "O60687-1", "Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.", "Epilepsia", "2014 Aug", "Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinbock H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmuller J, Thiele H, Toliat MR, Lerche H, Nurnberg P, Sander T, Neubauer BA, Zimprich F", "protein_xref_pubmed", "24995671", "protein_xref_dbsnp", "rs121918363" ], [ "P42262-1", "AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.", "Nature communications", "2019 Jul 12", "Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H", "protein_xref_pubmed", "31300657", "protein_xref_dbsnp", "rs1553956958" ], [ "O76024-1", "Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.", "Human molecular genetics", "2001 Oct 15", "Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC", "protein_xref_pubmed", "11709538", "protein_xref_dbsnp", "rs28937893" ], [ "P12259-1", "Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis.", "Blood", "2004 May 1", "Steen M, Norstrom EA, Tholander AL, Bolton-Maggs PH, Mumford A, McVey JH, Tuddenham EG, Dahlback B", "protein_xref_pubmed", "14695241", "protein_xref_dbsnp", "rs118203911" ], [ "O60568-1", "A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.", "American journal of human genetics", "2008 Oct", "Salo AM, Cox H, Farndon P, Moss C, Grindulis H, Risteli M, Robins SP, Myllyla R", "protein_xref_pubmed", "18834968", "protein_xref_dbsnp", "rs121434414" ], [ "Q8WZ42-1", "Titin mutations as the molecular basis for dilated cardiomyopathy.", "Biochemical and biophysical research communications", "2002 Feb 22", "Itoh-Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Koyanagi T, Takahashi M, Hohda S, Ueda K, Nouchi T, Hiroe M, Marumo F, Imaizumi T, Yasunami M, Kimura A", "protein_xref_pubmed", "11846417", "protein_xref_dbsnp", "rs147879266" ], [ "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", "rs724159827" ], [ "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", "rs104893909" ], [ "P68871-1", "Novel beta 0-thalassemia mutation in a Canadian woman of British descent (codons 72/73, -AGTGA, +T).", "Hemoglobin", "1997 Jul", "Waye JS, Eng B, Patterson M, Chui DH, Fernandes BJ", "protein_xref_pubmed", "9255617", "protein_xref_dbsnp", "rs63751218" ], [ "P01009-1", "A new alpha 1-antitrypsin mutation, Thr-Met 85, (PI Zbristol) associated with novel electrophoretic properties.", "Annals of human genetics", "1997 Sep", "Lovegrove JU, Jeremiah S, Gillett GT, Temple IK, Povey S, Whitehouse DB", "protein_xref_pubmed", "9459000", "protein_xref_dbsnp", "rs199422213" ], [ "Q04695-1", "Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.", "The British journal of dermatology", "1998 Sep", "Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH", "protein_xref_pubmed", "9767294", "protein_xref_dbsnp", "rs59151893" ], [ "P68871-1", "Two new human hemoglobin variants caused by unusual mutational events: Hb Zaire contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain.", "Human genetics", "1992 Aug", "Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F", "protein_xref_pubmed", "1511986", "protein_xref_dbsnp", "rs33914944" ], [ "O60687-1", "GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.", "Nature genetics", "2013 Sep", "Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P", "protein_xref_pubmed", "23933820", "protein_xref_dbsnp", "rs121918363" ], [ "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", "rs33980500" ], [ "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", "rs35914488" ], [ "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", "rs387907257" ], [ "Q86TH1-1", "Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.", "Birth defects research. Part A, Clinical and molecular teratology", "2013 Dec", "Ben-Salem S, Hertecant J, Al-Shamsi AM, Ali BR, Al-Gazali L", "protein_xref_pubmed", "24014090", "protein_xref_dbsnp", "rs761886575" ], [ "P68871-1", "Haemoglobin Camperdown beta104(G6) arginine leads to serine.", "Biochimica et biophysica acta", "1975 May 30", "Wilkinson T, Chua CG, Carrell RW, Robin H, Exner T, Lee KM, Kronenberg H", "protein_xref_pubmed", "1138922", "protein_xref_dbsnp", "rs33914944" ], [ "Q96G97-2", "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.", "Nature genetics", "2004 Mar", "Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K", "protein_xref_pubmed", "14981520", "protein_xref_dbsnp", "rs137852972" ] ] }, "readme": "Name\n - Human Germline Mutation Citations\n\nVersion\n - v-2.2.1\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], Jingyue Wu [jingyue.wu@email.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-2.2.1/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-2.2.1/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-2.2.1/reviewed/human_protein_citations_mutation_germline.stat.csv\n\nFields\n Name: \"uniprotkb_canonical_ac\"\n Description: \"\"\n Unique Values: \"157\"\n Name: \"title\"\n Description: \"Title of the published article in the journal\"\n Unique Values: \"292\"\n Name: \"journal_name\"\n Description: \"The name of the journal in which the article is published\"\n Unique Values: \"85\"\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: \"250\"\n Name: \"authors\"\n Description: \"NA\"\n Unique Values: \"291\"\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: \"292\"\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: \"192\"", "downloadurl": "/ln2data/releases/data/v-2.2.1/reviewed/human_protein_citations_mutation_germline.csv" }