Property Summary

NCBI Gene PubMed Count 78
Grant Count 6
Funding $632,368.59
PubMed Score 39.16
PubTator Score 46.43

Knowledge Summary

Patent

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Gene RIF (39)

PMID Text
26366535 In the first published genome-wide association study of postburn hypertrophic scarring (HTS), we report that a common intronic variant in the CSMD1 gene is associated with reduced severity of postburn HTS.
26076954 Loss of heterozygosity at D8S262 and down-regulation of CSMD1 expression may be early events in hepatocarcinogenesis.
25845235 The associations of rs2616984 in CSMD1 gene, putative associations of rs3131296 in NOTCH4 gene, and associations of rs2229741 of NRIP1 gene with Alzheimer's disease have been found in a Russian population.
25695618 This exploratory study reports two plausible loci associated with systolic blood pressure response to hydrochlorothiazide: TET2, an aldosterone-responsive mediator of alphaENaC gene transcription; and CSMD1, previously described as associated with hypertension in a case-control study.
25057126 A SNP within CSMD1 associated with variation in the potential osteoarthritis biomarker uCTX-II levels with borderline genome-wide significance.
24630139 Results underline the relevance of the risk "A" allele to neurocognitive functioning and suggest that its detrimental effects on cognition, may be part of the mechanism by which the CSMD1 mediates risk for schizophrenia
24408017 CSMD1 and CSMD2 expressions were associated with overall survival
24387768 role of CSMD1 and SYNE1 in the etiology of bipolar disorder
23964079 CSMD1 inhibits complement by promoting factor I-mediated C4b/C3b degradation and inhibition of membrane attack complex assembly.
23839771 Single nucleotide polymorphism rs10503253 within the CSMD1 gene is associated with cognition disorder in schizophrenia.
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AA Sequence

MTAWRRFQSLLLLLGLLVLCARLLTAAKGQNCGGLVQGPNGTIESPGFPHGYPNYANCTWIIITGERNRI      1 - 70
QLSFHTFALEENFDILSVYDGQPQQGNLKVRLSGFQLPSSIVSTGSILTLWFTTDFAVSAQGFKALYEVL     71 - 140
PSHTCGNPGEILKGVLHGTRFNIGDKIRYSCLPGYILEGHAILTCIVSPGNGASWDFPAPFCRAEGACGG    141 - 210
TLRGTSSSISSPHFPSEYENNADCTWTILAEPGDTIALVFTDFQLEEGYDFLEISGTEAPSIWLTGMNLP    211 - 280
SPVISSKNWLRLHFTSDSNHRRKGFNAQFQVKKAIELKSRGVKMLPSKDGSHKNSVLSQGGVALVSHMCL    281 - 350
DPGIPENGRRAGSDFSRVGANVQFSCEDNYVLQGSKSITCQRVTETLAAWSDHRPICRARTCGSNLRGPS    351 - 420
GVITSPNYPVQYEDNAHCVWVITTTDPDKVIKLAFEEFELERGYDTLTVGDAGKVGDTRSVLYVLTGSSV    421 - 490
PDLIVSMSNQMWLHLQSDDSIGSPGFKAVYQEIEKGGCGDPGIPAYGKRTGSSFLHGDTLTFECPAAFEL    491 - 560
VGERVITCQQNNQWSGNKPSCVFSCFFNFTASSGIILSPNYPEEYGNNMNCVWLIISEPGSRIHLIFNDF    561 - 630
DVEPQFDFLAVKDDGISDITVLGTFSGNEVPSQLASSGHIVRLEFQSDHSTTGRGFNITYTTFGQNECHD    631 - 700
PGIPINGRRFGDRFLLGSSVSFHCDDGFVKTQGSESITCILQDGNVVWSSTVPRCEAPCGGHLTASSGVI    701 - 770
LPPGWPGYYKDSLHCEWIIEAKPGHSIKMTFDRFQTEVNYDTLEVRDGPASSSPLIGEYHGTQAPQFLIS    771 - 840
TGNFMYLLFTTDNSRSSIGFLIHYESVTLESDSCLDPGIPVNGHRHGGDFGIRSTVTFSCDPGYTLSDDE    841 - 910
PLVCERNHQWNHALPSCDALCGGYIQGKSGTVLSPGFPDFYPNSLNCTWTIEVSHGKGVQMIFHTFHLES    911 - 980
SHDYLLITEDGSFSEPVARLTGSVLPHTIKAGLFGNFTAQLRFISDFSISYEGFNITFSEYDLEPCDDPG    981 - 1050
VPAFSRRIGFHFGVGDSLTFSCFLGYRLEGATKLTCLGGGRRVWSAPLPRCVAECGASVKGNEGTLLSPN   1051 - 1120
FPSNYDNTHECIYKIETEAGKGIHLRTRSFQLFEGDTLKVYDGKDSSSRPLGTFTKNELLGLILNSTSNH   1121 - 1190
LWLEFNTNGSDTDQGFQLTYTSFDLVKCEDPGIPNYGYRIRDEGHFTDTVVLYSCNPGYAMHGSNTLTCL   1191 - 1260
SGDRRVWDKPLPSCIAECGGQIHAATSGRILSPGYPAPYDNNLHCTWIIEADPGKTISLHFIVFDTEMAH   1261 - 1330
DILKVWDGPVDSDILLKEWSGSALPEDIHSTFNSLTLQFDSDFFISKSGFSIQFSTSIAATCNDPGMPQN   1331 - 1400
GTRYGDSREAGDTVTFQCDPGYQLQGQAKITCVQLNNRFFWQPDPPTCIAACGGNLTGPAGVILSPNYPQ   1401 - 1470
PYPPGKECDWRVKVNPDFVIALIFKSFNMEPSYDFLHIYEGEDSNSPLIGSYQGSQAPERIESSGNSLFL   1471 - 1540
AFRSDASVGLSGFAIEFKEKPREACFDPGNIMNGTRVGTDFKLGSTITYQCDSGYKILDPSSITCVIGAD   1541 - 1610
GKPSWDQVLPSCNAPCGGQYTGSEGVVLSPNYPHNYTAGQICLYSITVPKEFVVFGQFAYFQTALNDLAE   1611 - 1680
LFDGTHAQARLLSSLSGSHSGETLPLATSNQILLRFSAKSGASARGFHFVYQAVPRTSDTQCSSVPEPRY   1681 - 1750
GRRIGSEFSAGSIVRFECNPGYLLQGSTALHCQSVPNALAQWNDTIPSCVVPCSGNFTQRRGTILSPGYP   1751 - 1820
EPYGNNLNCIWKIIVTEGSGIQIQVISFATEQNWDSLEIHDGGDVTAPRLGSFSGTTVPALLNSTSNQLY   1821 - 1890
LHFQSDISVAAAGFHLEYKTVGLAACQEPALPSNSIKIGDRYMVNDVLSFQCEPGYTLQGRSHISCMPGT   1891 - 1960
VRRWNYPSPLCIATCGGTLSTLGGVILSPGFPGSYPNNLDCTWRISLPIGYGAHIQFLNFSTEANHDFLE   1961 - 2030
IQNGPYHTSPMIGQFSGTDLPAALLSTTHETLIHFYSDHSQNRQGFKLAYQAYELQNCPDPPPFQNGYMI   2031 - 2100
NSDYSVGQSVSFECYPGYILIGHPVLTCQHGINRNWNYPFPRCDAPCGYNVTSQNGTIYSPGFPDEYPIL   2101 - 2170
KDCIWLITVPPGHGVYINFTLLQTEAVNDYIAVWDGPDQNSPQLGVFSGNTALETAYSSTNQVLLKFHSD   2171 - 2240
FSNGGFFVLNFHAFQLKKCQPPPAVPQAEMLTEDDDFEIGDFVKYQCHPGYTLVGTDILTCKLSSQLQFE   2241 - 2310
GSLPTCEAQCPANEVRTGSSGVILSPGYPGNYFNSQTCSWSIKVEPNYNITIFVDTFQSEKQFDALEVFD   2311 - 2380
GSSGQSPLLVVLSGNHTEQSNFTSRSNQLYLRWSTDHATSKKGFKIRYAAPYCSLTHPLKNGGILNRTAG   2381 - 2450
AVGSKVHYFCKPGYRMVGHSNATCRRNPLGMYQWDSLTPLCQAVSCGIPESPGNGSFTGNEFTLDSKVVY   2451 - 2520
ECHEGFKLESSQQATAVCQEDGLWSNKGKPPMCKPVACPSIEAQLSEHVIWRLVSGSLNEYGAQVLLSCS   2521 - 2590
PGYYLEGWRLLRCQANGTWNIGDERPSCRVISCGSLSFPPNGNKIGTLTVYGATAIFTCNTGYTLVGSHV   2591 - 2660
RECLANGLWSGSETRCLAGHCGSPDPIVNGHISGDGFSYRDTVVYQCNPGFRLVGTSVRICLQDHKWSGQ   2661 - 2730
TPVCVPITCGHPGNPAHGFTNGSEFNLNDVVNFTCNTGYLLQGVSRAQCRSNGQWSSPLPTCRVVNCSDP   2731 - 2800
GFVENAIRHGQQNFPESFEYGMSILYHCKKGFHLLGSSALTCMANGLWDRSLPKCLAISCGHPGVPANAV   2801 - 2870
LTGELFTYGAVVHYSCRGSESLIGNDTRVCQEDSHWSGALPHCTGNNPGFCGDPGTPAHGSRLGDDFKTK   2871 - 2940
SLLRFSCEMGHQLRGSPERTCLLNGSWSGLQPVCEAVSCGNPGTPTNGMIVSSDGILFSSSVIYACWEGY   2941 - 3010
KTSGLMTRHCTANGTWTGTAPDCTIISCGDPGTLANGIQFGTDFTFNKTVSYQCNPGYVMEAVTSATIRC   3011 - 3080
TKDGRWNPSKPVCKAVLCPQPPPVQNGTVEGSDFRWGSSISYSCMDGYQLSHSAILSCEGRGVWKGEIPQ   3081 - 3150
CLPVFCGDPGIPAEGRLSGKSFTYKSEVFFQCKSPFILVGSSRRVCQADGTWSGIQPTCIDPAHNTCPDP   3151 - 3220
GTPHFGIQNSSRGYEVGSTVFFRCRKGYHIQGSTTRTCLANLTWSGIQTECIPHACRQPETPAHADVRAI   3221 - 3290
DLPTFGYTLVYTCHPGFFLAGGSEHRTCKADMKWTGKSPVCKSKGVREVNETVTKTPVPSDVFFVNSLWK   3291 - 3360
GYYEYLGKRQPATLTVDWFNATSSKVNATFSEASPVELKLTGIYKKEEAHLLLKAFQIKGQADIFVSKFE   3361 - 3430
NDNWGLDGYVSSGLERGGFTFQGDIHGKDFGKFKLERQDPLNPDQDSSSHYHGTSSGSVAAAILVPFFAL   3431 - 3500
ILSGFAFYLYKHRTRPKVQYNGYAGHENSNGQASFENPMYDTNLKPTEAKAVRFDTTLNTVCTVV        3501 - 3565
//

Publication (80)

PMID Year Title
26566883 2016 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
26366535 2015 Genome-wide Association Study of Postburn Scarring Identifies a Novel Protective Variant.
26076954 2015 Loss of heterozygosity at D8S262: an early genetic event of hepatocarcinogenesis.
25845235 [Replicative association analysis of genetic markers of cognitive traits with Alzheimer's disease in a Russian population].
25695618 2015 TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives.
25456346 2015 Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.
25343990 2015 Genome-wide association study of selenium concentrations.
25241909 2014 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25057126 2014 Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
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