1 | CDK5, FIBP, MRSHFD, TMEM94
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| Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
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| Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.
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| Am J Hum Genet 103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001. 2018
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2 | FIBP
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| FIBP knockdown attenuates growth and enhances chemotherapy in colorectal cancer via regulating GSK3β-related pathways.
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| Huang YF, Niu WB, Hu R, Wang LJ, Huang ZY, Ni SH, Wang MQ, Yang Y, Huang YS, Feng WJ, Xiao W, Zhu DJ, Xian SX, Lu L.
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| Oncogenesis 7(9):77. doi: 10.1038/s41389-018-0088-9.
2018
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3 | FIBP, ORDMR
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| A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
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| Akawi N, Ben-Salem S, Lahti L, Partanen J, Ali BR, Al-Gazali L.
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| Am J Med Genet A 170(8):2111-8. doi: 10.1002/ajmg.a.37741. Epub 2016 May 17. Review.
2016
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4 | FIBP, ORDMR
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| Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
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| Thauvin-Robinet C, Duplomb-Jego L, Limoge F, Picot D, Masurel A, Terriat B, Champilou C, Minot D, St-Onge J, Kuentz P, Duffourd Y, Thevenon J, Rivière JB, Faivre L.
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| Clin Genet 89(5):e1-4. doi: 10.1111/cge.12704. Epub 2016 Jan 20.
2016
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5 | C2CD5, CDK5, FIBP
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| Proteomic analysis of the human cyclin-dependent kinase family reveals a novel CDK5 complex involved in cell growth and migration.
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| Xu S, Li X, Gong Z, Wang W, Li Y, Nair BC, Piao H, Yang K, Wu G, Chen J.
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| Mol Cell Proteomics 13(11):2986-3000. doi: 10.1074/mcp.M113.036699. Epub 2014 Aug 5.
2014
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6 | ACOT2, AFAP1L1, ALG11, ANKS1A, ARMC6, ARPC1A, ARPC3, ARPC5L, ATG10, ATP5L, BAZ1A, BCAS2, C2orf44, CAPZA1, CAPZA2, CCDC47, CERS2, CMBL, CPSF2, CSTF3, CXorf56, EXT2, FAF2, FBXO4, FIBP, GLRX3, GPS1, GSKIP, INPP5K, KPNA4, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT36, LUC7L2, MAGED1, MED7, MMS22L, MPRIP, MPRIP, MRCL3, NAA25, NDN, NPEPPS, NRDE2, OLA1, ORCTL3, OSTF1, PH4B, PIP5K1B, PKIG, PMVK, PSMC1, PSMC2, PSPH, RAB11FIP1, RBX1, RNF219, RO60, RPS14, SF3B14, SF3B2, SFRS12, STK25, TLK2, TONSL, TPM3, TRMT112, TSPAN17, TWF2, UBE2M, UNC45A, UQCRC1, WRAP73, XPO7, ZRANB2
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| Large-scale mapping of human protein-protein interactions by mass spectrometry.
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| Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D.
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| Mol Syst Biol 3:89. Epub 2007 Mar 13. 2007
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7 | FIBP
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| Organization, chromosomal localization and promoter analysis of the geneencoding human acidic fibroblast growth factor intracellular binding protein.
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| Kolpakova E, Frengen E, Stokke T, Olsnes S.
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| Biochem J 352 Pt 3:629-35. 2000
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8 | FIBP
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| Cloning of an intracellular protein that binds selectively to mitogenic acidicfibroblast growth factor.
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| Kolpakova E, Wiedlocha A, Stenmark H, Klingenberg O, Falnes PO, Olsnes S.
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| Biochem J 336 ( Pt 1):213-22. 1998
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