| 1 | COL6A1, COL6A2, CRELD1, FBLN2, FRZB, GATA5, VEGFA
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| An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects.
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| Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL.
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| Am J Hum Genet 91(4):646-59. doi: 10.1016/j.ajhg.2012.08.017.
2012
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| 2 | CRELD1
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| Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.
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| Ghosh P, Bhaumik P, Ghosh S, Ozbek U, Feingold E, Maslen C, Sarkar B, Pramanik V, Biswas P, Bandyopadhyay B, Dey SK.
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| Am J Med Genet A 158A(11):2843-8. doi: 10.1002/ajmg.a.35626. Epub 2012 Sep 14.
2012
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| 3 | AVSD2, CRELD1
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| Novel CRELD1 gene mutations in patients with atrioventricular septal defect.
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| Guo Y, Shen J, Yuan L, Li F, Wang J, Sun K.
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| World J Pediatr 6(4):348-52. Epub 2010 Nov 16.
2010
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| 4 | CRELD1, RTN3
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| RTN3 inducing apoptosis is modulated by an adhesion protein CRELD1.
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| Xiang R, Zhao S.
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| Mol Cell Biochem 331(1-2):225-30. Epub 2009 Jun 12.
2009
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| 5 | BMP4, CRELD1, GATA4, NKX2-5
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| Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.
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| Posch MG, Perrot A, Schmitt K, Mittelhaus S, Esenwein EM, Stiller B, Geier C, Dietz R, Gessner R, Ozcelik C, Berger F.
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| Am J Med Genet A 146A(2):251-3. No abstract available.
2008
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| 6 | CRELD1, AVSD1
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| CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.
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| Maslen CL, Babcock D, Robinson SW, Bean LJ, Dooley KJ, Willour VL, Sherman SL.
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| Am J Med Genet A 140(22):2501-5. No abstract available. 2006
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| 7 | CRELD1, AVSD2, DEL3PD
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| Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).
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| Zatyka M, Priestley M, Ladusans EJ, Fryer AE, Mason J, Latif F, Maher ER.
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| Clin Genet 67(6):526-8. No abstract available. 2005
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| 8 | CRELD1, GATA4, AVSD2
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| CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects.
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| Sarkozy A, Esposito G, Conti E, Digilio MC, Marino B, Calabro R, Pizzuti A, Dallapiccola B.
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| Am J Med Genet A 139A(3):236-238. 2005
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| 9 | ACAP3, ARL15, C14orf139, C15orf29, C16orf45, C17orf61, C4orf17, C8orf30A, CAPNS1, CCDC109B, CCDC137, CCDC137P, CCDC92, CETN3, CRELD1, CXorf26, DAGLB, FAM131A, FAM135B, FAM173A, IGSF21, IK, KBTBD7, KIAA1875, MED31, NDUFB9, RABIF, SYN1
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| A human protein-protein interaction network: a resource for annotating the proteome.
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| Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toks�z E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE.
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| Cell 122(6):957-68. 2005
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| 10 | AVSD2, CRELD1, DEL3PD
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| Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
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| Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL.
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| Am J Hum Genet 72(4):1047-52. Epub 2003 Mar 11. 2003
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| 11 | CRELD1, CRELD2
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| Identification, genomic organization and mRNA expression of CRELD1, the foundingmember of a unique family of matricellular proteins.
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| Rupp PA, Fouad GT, Egelston CA, Reifsteck CA, Olson SB, Knosp WM, GlanvilleRW, Thornburg KL, Robinson SW, Maslen CL.
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| Gene 293(1-2):47-57. 2002
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| 12 | AIF1L, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1B, APOLD1, ARMC4, ATXN10, C10orf10, C10orf10, C10orf118, C2orf14, C2orf16, C6orf60, C6orf62, C8orf71, CALCOCO1, CAMKK1, CCDC113, CCDC135, CCDC9, CCDC90B, CCNB2, CD99L2, CHPF, CLIC4, CLPB, CRELD1, CYBRD1, DDX47, DHRS7B, ESPN, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GOLT1B, GPS2, GRIPAP1, HIGD1A, IER3IP1, KIF18A, KIRREL2, KLC2, LHX6, LMAN2L, MAF1, MED23, MIS12, MOB4, MYCBPAP, NCALD, NELF, NELFB, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, PCBD2, PMFBP1, PRPF31, PRSS23, QRSL1, RGMA, RGMB, RNF123, RNF146, RWDD3, SAMHD1, SECISBP2, SEMA4F, SERBP1, SERP1, SH3BP5L, SLC25A24, SLC25A39, SLC37A3, SLC41A2, SLC6A16, SMC6, SPEF1, STMN2, TARDBP, TBC1D3, TBL2, TFIP11, TIGD6, TIMMDC1, TMEM117, TMEM186, TNB, TRAF7, TRAPPC8, TSC22D3, TSPAN14, TWF2, UBA5, UNC50, WDR24, WDR37, WDR91, WSB1, YIPF3, ZC3H13, ZMYND12, ZMYND15, ZRANB3
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| Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
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| Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A.
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| Genome Res 11(3):422-35. 2001
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| 13 | ADIPOR1, AIG1, AMDHD2, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1A, APH1B, APIP, APOLD1, ARS2, ASCC1, ATXN10, BOLA1, C10orf10, C14orf166, C19orf56, C20orf109, C20orf4, C2orf14, C2orf16, C6orf60, C6orf62, CALCOCO1, CAMKK1, CCDC113, CCDC53, CCDC9, CCNB2, CD99L2, CDK5RAP1, CDK5RAP1, CGI-96, CHMP5, CHPF, CIAO2B, CLIC4, CLPB, COPZ1, COQ4, COQ6, CRELD1, CUTC, CYBRD1, DDX47, DERA, DHRS7, DHRS7B, DHRS7B, DPH5, DTNB, DYNC1LI2, EEF1AKNMT, ELOVL1, EMC9, ERGIC3, ESPN, EXOSC1, EXOSC3, FAHD2A, FAM108B1, FAM18B, FAM32A, FAM82B, FCF1, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GET4, GLOD4, GLRX2, GOLT1B, GOLT1B, GPR89A, GPS2, GRIPAP1, HDDC2, HDGFRP3, HIGD1A, IER3IP1, IFT52, ISOC1, KIF18A, KIF20B, KIRREL2, KL3, KLC2, LACTB2, LHX6, LMAN2L, LUC7L2, MAF1, MAGMAS, MECR, MED23, MED31, MEMO, METTL9, MIS12, MOABHD5, MOB4, MPC1, MRPL11, MRPL2, MRPL4, MRPL48, MRPS15, MRPS16, MRPS16P2, MRPS18C, MRPS23, MRPS33, MTCH1, MTERF3, MTO1, MYCBPAP, NCALD, NCIE2, NDUFAF1, NELF, NELFB, NFU1, NMD3, NOSIP, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, OTUD6B, PARVB, PCBD2, PHF20L1, PIGT, PMFBP1, PNAS-4, PRPF31, PRSS23, PTRH2, QRSL1, RBMX2, RGMA, RGMB, RNF103-CHMP3, RNF123, RNF146, RRNAD1, RRP15, RWDD1, RWDD3, SAMHD1, SAMM50, SCCPDH, SECISBP2, SEMA4F, SERBP1, SERBP1, SERP1, SH3BP5L, SIDT2, SLC25A24, SLC25A39, SLC35C2, SLC37A3, SLC41A2, SLC6A16, SLMO2, SMC6, SPEF1, SQRDL, STARD10, STMN2, SYF2, TARDBP, TBC1D3, TBL2, TFB1M, TFIP11, THAP4, THAP4, TIGD6, TIMMDC1, TMED5, TMED7, TMEM47, TPPP3, TRAF7, TRAPPC12, TRAPPC4, TRMT6, TRNT1, TSC22D3, TSPAN14, TWF2, UBE1DC1, UBE2J1, UCHL5, UNC50, USP39, UTP11L, VPS36, WDR37, WDR50, WDR91, WSB1, YARS2, YIPF3, YPEL5, ZC2HC1A, ZC3H13, ZDHHC9, ZMYND12, ZMYND15, ZRANB3
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| Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
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| Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W.
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| Genome Res 10(5):703-13. 2000
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