| Tag | Content |
|---|---|
| UniProt Accession | FBN1_HUMAN; P35555; |
| Entrez ID | 2200 |
| GenBank Protein ID | |
| GenBank Nucleotide ID | |
| Protein Name | Fibrillin-1 [Cleaved into: Asprosin] |
| Gene Name | FBN1; FBN |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissu(view all)Functional Description Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles. Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11. This leads to disruption of TNFSF11-induced Ca2+ signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232). Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921).;Asprosin: Hormone that targets the liver to increase plasma glucose levels. Secreted by white adipose tissue and circulates in the plasma. Acts in response to fasting and promotes blood glucose elevation by binding to the surface of hepatocytes. Promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation. |
| Sequence (Fasta) | MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS RAKRRGGGGH DALKGPNVCG 60 SRYNAYCCPG WKTLPGGNQC IVPICRHSCG DGFCSRPNMC TCPSGQIAPS CGSRSIQHCN 120 IRCMNGGSCS DDHCLCQKGY IGTHCGQPVC ESGCLNGGRC VAPNRCACTY GFTGPQCERD 180 YRTGPCFTVI SNQMCQGQLS GIVCTKTLCC ATVGRAWGHP CEMCPAQPHP CRRGFIPNIR 240 TGACQDVDEC QAIPGLCQGG NCINTVGSFE CKCPAGHKLN EVSQKCEDID ECSTIPGICE 300 GGECTNTVSS YFCKCPPGFY TSPDGTRCID VRPGYCYTAL TNGRCSNQLP QSITKMQCCC 360 DAGRCWSPGV TVAPEMCPIR ATEDFNKLCS VPMVIPGRPE YPPPPLGPIP PVLPVPPGFP 420 PGPQIPVPRP PVEYLYPSRE PPRVLPVNVT DYCQLVRYLC QNGRCIPTPG SCRCECNKGF 480 QLDLRGECID VDECEKNPCA GGECINNQGS YTCQCRAGYQ STLTRTECRD IDECLQNGRI 540 CNNGRCINTD GSFHCVCNAG FHVTRDGKNC EDMDECSIRN MCLNGMCINE DGSFKCICKP 600 GFQLASDGRY CKDINECETP GICMNGRCVN TDGSYRCECF PGLAVGLDGR VCVDTHMRST 660 CYGGYKRGQC IKPLFGAVTK SECCCASTEY AFGEPCQPCP AQNSAEYQAL CSSGPGMTSA 720 GSDINECALD PDICPNGICE NLRGTYKCIC NSGYEVDSTG KNCVDINECV LNSLLCDNGQ 780 CRNTPGSFVC TCPKGFIYKP DLKTCEDIDE CESSPCINGV CKNSPGSFIC ECSSESTLDP 840 TKTICIETIK GTCWQTVIDG RCEININGAT LKSQCCSSLG AAWGSPCTLC QVDPICGKGY 900 SRIKGTQCED IDECEVFPGV CKNGLCVNTR GSFKCQCPSG MTLDATGRIC LDIRLETCFL 960 RYEDEECTLP IAGRHRMDAC CCSVGAAWGT EECEECPMRN TPEYEELCPR GPGFATKEIT 1020 NGKPFFKDIN ECKMIPSLCT HGKCRNTIGS FKCRCDSGFA LDSEERNCTD IDECRISPDL 1080 CGRGQCVNTP GDFECKCDEG YESGFMMMKN CMDIDECQRD PLLCRGGVCH NTEGSYRCEC 1140 PPGHQLSPNI SACIDINECE LSAHLCPNGR CVNLIGKYQC ACNPGYHSTP DRLFCVDIDE 1200 CSIMNGGCET FCTNSEGSYE CSCQPGFALM PDQRSCTDID ECEDNPNICD GGQCTNIPGE 1260 YRCLCYDGFM ASEDMKTCVD VNECDLNPNI CLSGTCENTK GSFICHCDMG YSGKKGKTGC 1320 TDINECEIGA HNCGKHAVCT NTAGSFKCSC SPGWIGDGIK CTDLDECSNG THMCSQHADC 1380 KNTMGSYRCL CKEGYTGDGF TCTDLDECSE NLNLCGNGQC LNAPGGYRCE CDMGFVPSAD 1440 GKACEDIDEC SLPNICVFGT CHNLPGLFRC ECEIGYELDR SGGNCTDVNE CLDPTTCISG 1500 NCVNTPGSYI CDCPPDFELN PTRVGCVDTR SGNCYLDIRP RGDNGDTACS NEIGVGVSKA 1560 SCCCSLGKAW GTPCEMCPAV NTSEYKILCP GGEGFRPNPI TVILEDIDEC QELPGLCQGG 1620 KCINTFGSFQ CRCPTGYYLN EDTRVCDDVN ECETPGICGP GTCYNTVGNY TCICPPDYMQ 1680 VNGGNNCMDM RRSLCYRNYY ADNQTCDGEL LFNMTKKMCC CSYNIGRAWN KPCEQCPIPS 1740 TDEFATLCGS QRPGFVIDIY TGLPVDIDEC REIPGVCENG VCINMVGSFR CECPVGFFYN 1800 DKLLVCEDID ECQNGPVCQR NAECINTAGS YRCDCKPGYR FTSTGQCNDR NECQEIPNIC 1860 SHGQCIDTVG SFYCLCHTGF KTNDDQTMCL DINECERDAC GNGTCRNTIG SFNCRCNHGF 1920 ILSHNNDCID VDECASGNGN LCRNGQCINT VGSFQCQCNE GYEVAPDGRT CVDINECLLE 1980 PRKCAPGTCQ NLDGSYRCIC PPGYSLQNEK CEDIDECVEE PEICALGTCS NTEGSFKCLC 2040 PEGFSLSSSG RRCQDLRMSY CYAKFEGGKC SSPKSRNHSK QECCCALKGE GWGDPCELCP 2100 TEPDEAFRQI CPYGSGIIVG PDDSAVDMDE CKEPDVCKHG QCINTDGSYR CECPFGYILA 2160 GNECVDTDEC SVGNPCGNGT CKNVIGGFEC TCEEGFEPGP MMTCEDINEC AQNPLLCAFR 2220 CVNTYGSYEC KCPVGYVLRE DRRMCKDEDE CEEGKHDCTE KQMECKNLIG TYMCICGPGY 2280 QRRPDGEGCV DENECQTKPG ICENGRCLNT RGSYTCECND GFTASPNQDE CLDNREGYCF 2340 TEVLQNMCQI GSSNRNPVTK SECCCDGGRG WGPHCEICPF QGTVAFKKLC PHGRGFMTNG 2400 ADIDECKVIH DVCRNGECVN DRGSYHCICK TGYTPDITGT SCVDLNECNQ APKPCNFICK 2460 NTEGSYQCSC PKGYILQEDG RSCKDLDECA TKQHNCQFLC VNTIGGFTCK CPPGFTQHHT 2520 SCIDNNECTS DINLCGSKGI CQNTPGSFTC ECQRGFSLDQ TGSSCEDVDE CEGNHRCQHG 2580 CQNIIGGYRC SCPQGYLQHY QWNQCVDENE CLSAHICGGA SCHNTLGSYK CMCPAGFQYE 2640 QFSGGCQDIN ECGSAQAPCS YGCSNTEGGY LCGCPPGYFR IGQGHCVSGM GMGRGNPEPP 2700 VSGEMDDNSL SPEACYECKI NGYPKRGRKR RSTNETDASN IEDQSETEAN VSLASWDVEK 2760 TAIFAFNISH VSNKVRILEL LPALTTLTNH NRYLIESGNE DGFFKINQKE GISYLHFTKK 2820 KPVAGTYSLQ ISSTPLYKKK ELNQLEDKYD KDYLSGELGD NLKMKIQVLL H 2872 Fasta Sequence>P35555|FBN1; FBN|Homo sapiens (Human) MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCGSRYNAYCCPGWKTLPGGNQCIVPICRHSCGDGFCSRPNMCTCPSGQIAPSCGSRSIQHCNIRCMNGGSCSDDHCLCQKGYIGTHCGQPVCESGCLNGGRCVAPNRCACTYGFTGPQCERDYRTGPCFTVISNQMCQGQLSGIVCTKTLCCATVGRAWGHPCEMCPAQPHPCRRGFIPNIRTGACQDVDECQAIPGLCQGGNCINTVGSFECKCPAGHKLNEVSQKCEDIDECSTIPGICEGGECTNTVSSYFCKCPPGFYTSPDGTRCIDVRPGYCYTALTNGRCSNQLPQSITKMQCCCDAGRCWSPGVTVAPEMCPIRATEDFNKLCSVPMVIPGRPEYPPPPLGPIPPVLPVPPGFPPGPQIPVPRPPVEYLYPSREPPRVLPVNVTDYCQLVRYLCQNGRCIPTPGSCRCECNKGFQLDLRGECIDVDECEKNPCAGGECINNQGSYTCQCRAGYQSTLTRTECRDIDECLQNGRICNNGRCINTDGSFHCVCNAGFHVTRDGKNCEDMDECSIRNMCLNGMCINEDGSFKCICKPGFQLASDGRYCKDINECETPGICMNGRCVNTDGSYRCECFPGLAVGLDGRVCVDTHMRSTCYGGYKRGQCIKPLFGAVTKSECCCASTEYAFGEPCQPCPAQNSAEYQALCSSGPGMTSAGSDINECALDPDICPNGICENLRGTYKCICNSGYEVDSTGKNCVDINECVLNSLLCDNGQCRNTPGSFVCTCPKGFIYKPDLKTCEDIDECESSPCINGVCKNSPGSFICECSSESTLDPTKTICIETIKGTCWQTVIDGRCEININGATLKSQCCSSLGAAWGSPCTLCQVDPICGKGYSRIKGTQCEDIDECEVFPGVCKNGLCVNTRGSFKCQCPSGMTLDATGRICLDIRLETCFLRYEDEECTLPIAGRHRMDACCCSVGAAWGTEECEECPMRNTPEYEELCPRGPGFATKEITNGKPFFKDINECKMIPSLCTHGKCRNTIGSFKCRCDSGFALDSEERNCTDIDECRISPDLCGRGQCVNTPGDFECKCDEGYESGFMMMKNCMDIDECQRDPLLCRGGVCHNTEGSYRCECPPGHQLSPNISACIDINECELSAHLCPNGRCVNLIGKYQCACNPGYHSTPDRLFCVDIDECSIMNGGCETFCTNSEGSYECSCQPGFALMPDQRSCTDIDECEDNPNICDGGQCTNIPGEYRCLCYDGFMASEDMKTCVDVNECDLNPNICLSGTCENTKGSFICHCDMGYSGKKGKTGCTDINECEIGAHNCGKHAVCTNTAGSFKCSCSPGWIGDGIKCTDLDECSNGTHMCSQHADCKNTMGSYRCLCKEGYTGDGFTCTDLDECSENLNLCGNGQCLNAPGGYRCECDMGFVPSADGKACEDIDECSLPNICVFGTCHNLPGLFRCECEIGYELDRSGGNCTDVNECLDPTTCISGNCVNTPGSYICDCPPDFELNPTRVGCVDTRSGNCYLDIRPRGDNGDTACSNEIGVGVSKASCCCSLGKAWGTPCEMCPAVNTSEYKILCPGGEGFRPNPITVILEDIDECQELPGLCQGGKCINTFGSFQCRCPTGYYLNEDTRVCDDVNECETPGICGPGTCYNTVGNYTCICPPDYMQVNGGNNCMDMRRSLCYRNYYADNQTCDGELLFNMTKKMCCCSYNIGRAWNKPCEQCPIPSTDEFATLCGSQRPGFVIDIYTGLPVDIDECREIPGVCENGVCINMVGSFRCECPVGFFYNDKLLVCEDIDECQNGPVCQRNAECINTAGSYRCDCKPGYRFTSTGQCNDRNECQEIPNICSHGQCIDTVGSFYCLCHTGFKTNDDQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGFILSHNNDCIDVDECASGNGNLCRNGQCINTVGSFQCQCNEGYEVAPDGRTCVDINECLLEPRKCAPGTCQNLDGSYRCICPPGYSLQNEKCEDIDECVEEPEICALGTCSNTEGSFKCLCPEGFSLSSSGRRCQDLRMSYCYAKFEGGKCSSPKSRNHSKQECCCALKGEGWGDPCELCPTEPDEAFRQICPYGSGIIVGPDDSAVDMDECKEPDVCKHGQCINTDGSYRCECPFGYILAGNECVDTDECSVGNPCGNGTCKNVIGGFECTCEEGFEPGPMMTCEDINECAQNPLLCAFRCVNTYGSYECKCPVGYVLREDRRMCKDEDECEEGKHDCTEKQMECKNLIGTYMCICGPGYQRRPDGEGCVDENECQTKPGICENGRCLNTRGSYTCECNDGFTASPNQDECLDNREGYCFTEVLQNMCQIGSSNRNPVTKSECCCDGGRGWGPHCEICPFQGTVAFKKLCPHGRGFMTNGADIDECKVIHDVCRNGECVNDRGSYHCICKTGYTPDITGTSCVDLNECNQAPKPCNFICKNTEGSYQCSCPKGYILQEDGRSCKDLDECATKQHNCQFLCVNTIGGFTCKCPPGFTQHHTSCIDNNECTSDINLCGSKGICQNTPGSFTCECQRGFSLDQTGSSCEDVDECEGNHRCQHGCQNIIGGYRCSCPQGYLQHYQWNQCVDENECLSAHICGGASCHNTLGSYKCMCPAGFQYEQFSGGCQDINECGSAQAPCSYGCSNTEGGYLCGCPPGYFRIGQGHCVSGMGMGRGNPEPPVSGEMDDNSLSPEACYECKINGYPKRGRKRRSTNETDASNIEDQSETEANVSLASWDVEKTAIFAFNISHVSNKVRILELLPALTTLTNHNRYLIESGNEDGFFKINQKEGISYLHFTKKKPVAGTYSLQISSTPLYKKKELNQLEDKYDKDYLSGELGDNLKMKIQVLLH |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 16) (view all) | MESH:C535662
; Acromicric dysplasia MESH:D017545 ; Aortic Aneurysm, Thoracic MESH:D001019 ; Aortic Rupture MESH:D054119 ; Arachnodactyly MESH:D004479 ; Ectopia Lentis OMIM:129600 ; ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT MESH:D004715
; Endometriosis MESH:D006943 ; Hyperglycemia MESH:D006946 ; Hyperinsulinism MESH:D008103 ; Liver Cirrhosis MESH:D008106 ; Liver Cirrhosis, Experimental OMIM:616914 ; MARFAN LIPODYSTROPHY SYNDROME MESH:D008382 ; Marfan Syndrome MESH:C536030 ; MASS syndrome MESH:C566112 ; Stiff Skin Syndrome MESH:D056846 ; Weill-Marchesani Syndrome |
| DisGeNet (Curated) (count: 244) (view all) | C0003496; Aortic Rupture
C0003504; Aortic Valve Insufficiency C0003507; Aortic Valve Stenosis C0003706; Arachnodactyly C0008031; Chest Pain C0009917; Contracture C0009918; Contracture of joint
C0010495; Cutis Laxa C0013274; Patent ductus arteriosus C0013336; Dwarfism C0013405; Dyspnea, Paroxysmal C0013581; Ectopia Lentis C0014175; Endometriosis C0014306; Enophthalmos C0016202; Flatfoot C0017601; Glaucoma C0018800; Cardiomegaly C0018801; Heart failure C0018802; Congestive heart failure C0018808; Heart murmur C0018818; Ventricular Septal Defects C0019209; Hepatomegaly C0019825; Hoarseness C0020456; Hyperglycemia C0020459; Hyperinsulinism C0020534; Orbital separation excessive C0020538; Hypertensive disease C0020542; Pulmonary Hypertension C0023212; Left-Sided Heart Failure C0023890; Liver Cirrhosis C0023893; Liver Cirrhosis, Experimental C0024032; Low Birth Weights C0024796; Marfan Syndrome C0025990; Micrognathism C0026034; Microstomia C0026106; Mild Mental Retardation C0026266; Mitral Valve Insufficiency C0026267; Mitral Valve Prolapse Syndrome C0026269; Mitral Valve Stenosis C0026827; Muscle hypotonia C0027092; Myopia C0032326; Pneumothorax C0034067; Pulmonary Emphysema C0035229; Respiratory Insufficiency C0035305; Retinal Detachment C0037932; Curvature of spine C0038016; Spondylolisthesis C0040427; Tooth Abnormalities C0040433; Tooth Crowding C0040961; Tricuspid Valve Insufficiency C0040962; Tricuspid Valve Prolapse C0086543; Cataract C0152459; Linear atrophy C0158731; Congenital pectus carinatum C0162298; Joint stiffness C0162872; Aortic Aneurysm, Thoracic C0221356; Brachycephaly C0221357; Brachydactyly C0221358; Long narrow head C0231807; Dyspnea on exertion C0232466; Feeding difficulties C0235991; Small for gestational age (disorder) C0238669; Aortic root dilatation C0239234; Low set ears C0239479; Round face C0240295; Mandibular hypoplasia C0240310; Hypoplasia of the maxilla C0240543; Bulbous nose C0240635; Byzanthine arch palate C0241240; Tall stature C0241355; Small testicle C0262444; Dental abnormalities C0263401; Cutis marmorata C0264133; Acquired flat foot C0264142; Spade-like hand C0265004; Dilatation of aorta C0265287; Acromicric Dysplasia C0265313; Weill-Marchesani syndrome C0265646; Talipes Calcaneovarus C0267716; Incisional hernia C0271183; Severe myopia C0271215; Blindness, Legal C0302501; Mandibular hyperplasia C0333068; Flexion contracture C0334008; Pachyderma C0338656; Impaired cognition C0340643; Dissection of aorta C0344530; Congenital keratoglobus C0344539; Hypoplasia of iris C0345049; Ascending aorta dilatation C0349588; Short stature C0392775; Cystic medial necrosis of aorta C0399526; Class III malocclusion C0409495; Protrusio acetabuli C0423110; Downward slant of palpebral fissure C0423224; Sunken eyes C0423276; Shallow anterior chamber of eye C0423320; Iridodonesis C0424693; Broad skull C0426414; Small nose C0427144; Toe-walking gait C0428851; Dilatation of pulmonary artery, unspecified C0431890; Hypoplasia of thumb C0456909; Blind Vision C0476369; Echocardiogram abnormal C0497247; Increase in blood pressure C0541764; Delayed bone age C0542514; Blue sclera C0546964; Genu recurvatum C0553982; Impaired left ventricular function C0558242; Stretched skin C0575158; Kyphoscoliosis deformity of spine C0575802; Small hand C0683322; Mental impairment C0700078; Decreased tendon reflex C0700208; Acquired scoliosis C0700292; Hypoxemia C0728829; Congenital pes cavus C0852283; Respiratory Distress Syndrome C0856747; Aneurysm of ascending aorta C0877165; Short phalanx of finger C0878660; Proportionate short stature C1136179; Hammer Toe C1142533; Smooth philtrum C1167712; Corneal diameter increased C1184923; Lumbar lordosis C1280433; Lipoatrophy C1317785; Tooth size discrepancy C1321551; Shprintzen-Goldberg syndrome C1398312; Narrow palate C1510497; Lens Opacities C1833325; Thin bony cortex C1834118; Potato nose C1835117; Increased axial globe length C1835121; Premature osteoarthritis C1835130; Premature calcification of mitral annulus C1836047; Long face C1836542; Depressed nasal bridge C1836635; Loeys-Dietz Aortic Aneurysm Syndrome C1836653; Ascending aortic dissection C1836996; Marfanoid body habitus C1837084; Short metacarpal C1837108; Decreased muscle mass C1837404; High, narrow palate C1837463; Narrow face C1839739; Prominent lower lip C1839764; Broad flat nasal bridge C1839797; Deep philtrum C1840077; Anteverted nostril C1842229; Broad metacarpals C1842231; Broad metatarsals C1843108; Short hands C1844820; Range of joint movement increased C1848654; Broad ribs C1848673; Hypoplastic feet C1849121; Thin face C1849265; Overgrowth C1849367; Nasal bridge wide C1850161; Widened metatarsal shaft C1850530; Flexion contractures of joints C1851712; Dural ectasia C1851731; Generalized overgrowth C1852504; Misalignment of teeth C1853738; Long eyelashes C1854114; Short nose C1854301; Motor delay C1854912; Short tubular bones C1855665; Ovoid vertebral bodies C1855751; Bulbous nasal tip C1856468; Round, full face C1857108; Decreased joint mobility C1857130; Hypoplastic mandible condyle C1857640; Decreased nerve conduction velocity C1857657; Decreased subcutaneous adipose tissue C1858085; Malar flattening C1858556; OVERLAP CONNECTIVE TISSUE DISEASE C1860493; Sternal anomalies C1861329; Spinal canal stenosis C1861456; Stiff Skin Syndrome C1865014; Long philtrum C1865017; Thin upper lip vermilion C1865037; Cone-shaped epiphyses C1865244; Shallow orbits C1866231; Full cheeks C1956257; Pulmonary Stenosis C1956346; Coronary Artery Disease C2051831; Pectus excavatum C2053437; Full lower lip C2227134; mandibular excess (physical finding) C2674574; Aortic aneurysm, familial thoracic 3 C2748653; Chubby cheeks C2930812; Generalized elastolysis C2931588; GEMSS syndrome C2973725; Pulmonary arterial hypertension C3150281; Fetal overgrowth C3150613; Long toes C3203102; Idiopathic pulmonary arterial hypertension C3276324; Fifth metacarpal notched on ulnar side C3276815; Stiff skin C3280054; GELEOPHYSIC DYSPLASIA 2 C3489726; Geleophysic dysplasia C3494422; Retrognathia C3541518; ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT C3550546; Depressed nasal root/bridge C3551535; Mitral regurgitation, mild C3554617; Adducted thumb C3805726; Medial rotation of the medial malleolus C3806443; Puffy cheeks C4011556; Eyebrow abnormalities C4020844; Bullet vertebral body C4020855; Respiratory function loss C4020861; Depressed philtrum C4020874; No development of motor milestones C4020878; Diffusely thickened skin C4020962; Enlarged thorax C4021391; Broad phalanges of the hand C4021645; Recurrent abdominal hernia C4021998; Lack of skin elasticity C4022729; Increased arm span C4022878; Descending aortic dissection C4024166; Crumpled ear C4025752; Abnormality of cardiac ventricle C4025845; Abnormality of the iris C4072823; Broad cranium shape C4072824; Wide skull shape C4082243; Maxillary retrognathia C4280495; Concave bridge of nose C4280606; Hanging skin C4280610; Abnormality of position of teeth C4280617; Tooth mass arch size discrepancy C4280618; Inadequate arch length for tooth size C4280640; Retrusion of upper jaw bones C4280641; Hypotrophic maxilla C4280642; Deficiency of upper jaw bones C4280643; Decreased projection of maxilla C4280644; Increased size of mandible C4280645; Hypertrophy of lower jaw C4280647; Hypertrophy of cheeks C4280648; Hyperplasia of cheeks C4280651; Hypotrophic malar bone C4280653; Turridolichocephaly C4280654; Narrow skull shape C4280655; Narrow head shape C4280656; Narrow cranium shape |
| HGMD (count: 930) (view all) | CP015785; Fibrillinopathy; Complex rearrangements
CD075388; Marfan syndrome; Small deletions CD075389; Marfan syndrome, incomplete; Small deletions CD021823; Fibrillinopathy; Small deletions CD085812; Marfan syndrome ?; Small deletions CD000605; Marfan syndrome; Small deletions CD983901; Marfan syndrome; Small deletions
CD075390; Marfan syndrome, incomplete; Small deletions CD075391; Marfan syndrome; Small deletions CD077391; Marfan syndrome; Small deletions CD022152; Marfan syndrome; Small deletions CD077392; Marfan syndrome; Small deletions CD075392; Marfan syndrome, incomplete; Small deletions CD020856; Marfan syndrome; Small deletions CD040182; Marfan syndrome; Small deletions CD077393; Marfan syndrome; Small deletions CD054945; Marfan syndrome; Small deletions CD075393; Marfan syndrome; Small deletions CD021822; Fibrillinopathy; Small deletions CD983902; Marfan syndrome; Small deletions CD054946; Marfan syndrome; Small deletions CD091222; Marfan syndrome; Small deletions CD075394; Ectopia lentis; Small deletions CD013978; Marfan syndrome; Small deletions CD012255; Marfan syndrome; Small deletions CD075396; Marfan syndrome; Small deletions CD972833; Marfan syndrome; Small deletions CD012254; Marfan syndrome; Small deletions CD012682; Marfan syndrome; Small deletions CD972834; Marfan syndrome; Small deletions CD032462; Marfan syndrome; Small deletions CD091219; Marfan syndrome; Small deletions CD055683; Marfan syndrome; Small deletions CD054947; Marfan syndrome; Small deletions CD021824; Fibrillinopathy; Small deletions CD054948; Marfan syndrome; Small deletions CD067544; Marfan syndrome; Small deletions CD054949; Marfan syndrome; Small deletions CD077394; Marfan syndrome; Small deletions CD013977; Marfan syndrome; Small deletions CD010107; Marfan syndrome; Small deletions CD057026; Marfan syndrome; Small deletions CD075397; Marfan syndrome, incomplete; Small deletions CD075398; Marfan syndrome, incomplete; Small deletions CD040180; Marfan syndrome; Small deletions CD085813; Marfan syndrome; Small deletions CD075399; Marfan syndrome, incomplete; Small deletions CD077395; Marfan syndrome; Small deletions CD077396; Marfan syndrome; Small deletions CD982647; Marfan syndrome; Small deletions CD951705; Marfan syndrome; Small deletions CD075400; Marfan syndrome; Small deletions CD077397; Marfan syndrome; Small deletions CD972211; Marfan syndrome; Small deletions CD067545; Marfan syndrome; Small deletions CD077398; Marfan syndrome; Small deletions CD055684; Marfan syndrome; Small deletions CD075401; Marfan syndrome; Small deletions CD054950; Marfan syndrome; Small deletions CD042201; Marfan syndrome; Small deletions CD972832; Marfan syndrome; Small deletions CD013975; Marfan syndrome; Small deletions CD085814; Marfan syndrome; Small deletions CD991709; Marfan syndrome; Small deletions CD055685; Marfan syndrome; Small deletions CD022897; Marfan syndrome; Small deletions CD054951; Marfan syndrome; Small deletions CD057027; Marfan syndrome; Small deletions CD982648; Marfan syndrome; Small deletions CD962004; Marfan syndrome; Small deletions CD063527; Marfan syndrome; Small deletions CD991710; Marfan syndrome; Small deletions CD067546; Marfan syndrome; Small deletions CD021818; Fibrillinopathy; Small deletions CD077399; Marfan syndrome; Small deletions CD020234; Marfan syndrome; Small deletions CD075402; Marfan syndrome; Small deletions CD073640; Marfan syndrome; Small deletions CD075403; Marfan syndrome, incomplete; Small deletions CD077400; Marfan syndrome; Small deletions CD075404; Marfan syndrome, incomplete; Small deletions CD075405; Marfan syndrome, incomplete; Small deletions CD075406; Marfan syndrome, incomplete; Small deletions CD085815; Marfan syndrome; Small deletions CD067547; Marfan syndrome; Small deletions CD013976; Marfan syndrome; Small deletions CD004624; Marfan syndrome; Small deletions CD000931; Marfan syndrome; Small deletions CD067548; Marfan syndrome; Small deletions CD075407; Marfan syndrome ?; Small deletions CD962651; Marfan syndrome; Small deletions CD075408; Marfan syndrome; Small deletions CD055686; Marfan syndrome; Small deletions CD077401; Marfan syndrome; Small deletions CD054952; Marfan syndrome; Small deletions CD054953; Marfan syndrome; Small deletions CD991707; Marfan syndrome; Small deletions CD951707; Marfan syndrome; Small deletions CD067549; Marfan syndrome; Small deletions CD040181; Marfan syndrome; Small deletions CD021820; Fibrillinopathy; Small deletions CD057028; Marfan syndrome; Small deletions CD984081; Marfan syndrome; Small deletions CD040177; Marfan syndrome; Small deletions CD040176; Marfan syndrome; Small deletions CD021821; Fibrillinopathy; Small deletions CD021819; Fibrillinopathy; Small deletions CD991708; Marfan syndrome; Small deletions CD951704; Marfan syndrome; Small deletions CD067550; Marfan syndrome; Small deletions CD075409; Marfan syndrome, incomplete; Small deletions CD040174; Marfan syndrome; Small deletions CD057029; Marfan syndrome; Small deletions CD020855; Marfan syndrome; Small deletions CD040175; Marfan syndrome; Small deletions CD042199; Marfan syndrome; Small deletions CD993262; Marfan syndrome; Small deletions CD075410; Marfan syndrome, incomplete; Small deletions CD063528; Marfan syndrome; Small deletions CD091223; Marfan syndrome; Small deletions CD010108; Marfan syndrome; Small deletions CD042200; Marfan syndrome; Small deletions CD054954; Marfan syndrome; Small deletions CD075411; Marfan syndrome, incomplete; Small deletions CD040178; Marfan syndrome; Small deletions CD951706; Marfan syndrome; Small deletions CD075412; Marfan syndrome, incomplete; Small deletions CD930982; Marfan syndrome; Small deletions CD993261; Marfan syndrome; Small deletions CD022151; Marfan syndrome; Small deletions CD077402; Marfan syndrome; Small deletions CD040179; Marfan syndrome; Small deletions CD054955; Marfan syndrome; Small deletions CG070583; Marfan syndrome; Gross deletions CG035205; Weill-Marchesani syndrome; Gross deletions CG055852; Marfan syndrome; Gross deletions CG921089; Marfan syndrome; Gross deletions CG070584; Tall stature and ectopia lentis; Gross deletions CG015525; Marfan syndrome; Gross deletions CG015526; Marfan syndrome; Gross deletions CG994914; Marfan syndrome; Gross deletions CG090447; Ectopia lentis; Gross deletions CG015527; Marfan syndrome; Gross deletions CG015528; Marfan syndrome; Gross deletions CG015529; Marfan syndrome; Gross deletions CG015530; Marfan syndrome; Gross deletions CG015531; Marfan syndrome; Gross deletions CG082363; Marfan syndrome; Gross deletions CG015532; Marfan syndrome; Gross deletions CG075789; Weill-Marchesani syndrome; Gross deletions CG994915; Marfan syndrome; Gross deletions CN015718; Marfan syndrome; Gross insertions CN055813; Marfan syndrome; Gross insertions CN091221; Marfan syndrome; Gross insertions CX952044; Marfan syndrome; Small indels CX042248; Marfan syndrome; Small indels CX021927; Fibrillinopathy; Small indels CP044516; Marfan syndrome; Small indels CX075724; Marfan syndrome; Small indels CX022936; Marfan syndrome; Small indels CX021928; Fibrillinopathy; Small indels CX077465; Marfan syndrome; Small indels CX020910; Marfan syndrome; Small indels CX055788; Marfan syndrome; Small indels CI077444; Marfan syndrome; Small insertions CI055009; Marfan syndrome; Small insertions CI077445; Marfan syndrome; Small insertions CI012289; Marfan syndrome; Small insertions CI075628; Marfan syndrome, incomplete; Small insertions CI042238; Marfan syndrome; Small insertions CI020896; Marfan syndrome; Small insertions CI003211; Marfan syndrome; Small insertions CI077446; Marfan syndrome; Small insertions CI993288; Marfan syndrome; Small insertions CI075629; Marfan syndrome, incomplete; Small insertions CI022180; Marfan syndrome; Small insertions CI075630; Marfan syndrome; Small insertions CI972835; Marfan syndrome; Small insertions CI042237; Marfan syndrome; Small insertions CI091217; Marfan syndrome; Small insertions CI040203; Marfan syndrome; Small insertions CI013986; Marfan syndrome; Small insertions CI012288; Marfan syndrome; Small insertions CI013984; Marfan syndrome; Small insertions CI075631; Marfan syndrome; Small insertions CI011242; Marfan syndrome; Small insertions CI021907; Marfan syndrome; Small insertions CI021905; Fibrillinopathy; Small insertions CI063683; Marfan syndrome; Small insertions CI972837; Marfan syndrome; Small insertions CI075632; Aortic aneurysm; Small insertions CI077447; Marfan syndrome; Small insertions CI023302; Marfan syndrome; Small insertions CI055750; Marfan syndrome; Small insertions CI055010; Marfan syndrome; Small insertions CI057044; Marfan syndrome; Small insertions CI075633; Aortic aneurysm; Small insertions CI024581; Scleroderma, protection against, assoc. with ?; Small insertions CI067576; Marfan syndrome; Small insertions CI015161; Marfan syndrome; Small insertions CI941875; Marfan syndrome; Small insertions CI004629; Marfan syndrome; Small insertions CI013985; Marfan syndrome; Small insertions CI045629; Marfan syndrome; Small insertions CI021906; Fibrillinopathy; Small insertions CI085840; Marfan syndrome ?; Small insertions CI016169; Marfan syndrome; Small insertions CI972836; Marfan syndrome; Small insertions CI931085; Marfan syndrome; Small insertions CM091204; Marfan syndrome; Missense/nonsense CM054704; Marfan syndrome; Missense/nonsense CM090448; Ectopia lentis; Missense/nonsense CM085403; Marfan syndrome, incomplete; Missense/nonsense CM021992; Marfan syndrome; Missense/nonsense CM074834; Ectopia lentis; Missense/nonsense CM074845; Ectopia lentis; Missense/nonsense CM073061; Ectopia lentis; Missense/nonsense CM062701; Marfan syndrome; Missense/nonsense CM077273; Marfan syndrome; Missense/nonsense CM067403; Marfan syndrome; Missense/nonsense CM013916; Marfan syndrome; Missense/nonsense CM970504; Marfan syndrome; Missense/nonsense CM021993; Marfan syndrome; Missense/nonsense CM940756; Marfan syndrome; Missense/nonsense CM054715; Marfan syndrome; Missense/nonsense CM074828; Marfan syndrome, incomplete; Missense/nonsense CM950436; Marfan syndrome; Missense/nonsense CM062707; Marfan syndrome; Missense/nonsense CM077278; Marfan syndrome; Missense/nonsense CM085405; Marfan syndrome; Missense/nonsense CM077274; Marfan syndrome; Missense/nonsense CM040031; Marfan syndrome; Missense/nonsense CM055260; Marfan syndrome; Missense/nonsense CM074831; Marfan syndrome, incomplete; Missense/nonsense CM023914; Marfan syndrome; Missense/nonsense CM055251; Marfan syndrome; Missense/nonsense CM040032; Marfan syndrome; Missense/nonsense CM970505; Marfan syndrome; Missense/nonsense CM950437; Marfan syndrome; Missense/nonsense CM073060; Ectopia lentis; Missense/nonsense CM040033; Marfan syndrome; Missense/nonsense CM074807; Aortic aneurysm; Missense/nonsense CM972798; Marfan syndrome; Missense/nonsense CM085416; Marfan syndrome; Missense/nonsense CM054702; Marfan syndrome; Missense/nonsense CM085427; Marfan syndrome; Missense/nonsense CM043995; Marfan syndrome; Missense/nonsense CM067404; Marfan syndrome; Missense/nonsense CM045409; Ectopia lentis; Missense/nonsense CM003136; Marfan syndrome; Missense/nonsense CM940757; Marfan syndrome; Missense/nonsense CM056960; Marfan syndrome; Missense/nonsense CM983861; Marfan syndrome; Missense/nonsense CM090180; Marfan syndrome; Missense/nonsense CM021590; Fibrillinopathy; Missense/nonsense CM062712; Marfan syndrome; Missense/nonsense CM940758; Marfan syndrome; Missense/nonsense CM074792; Marfan syndrome; Missense/nonsense CM066806; Bilateral lens dislocation and glaucoma; Missense/nonsense CM067393; Marfan syndrome; Missense/nonsense CM054692; Marfan syndrome; Missense/nonsense CM074793; Marfan syndrome; Missense/nonsense CM042033; Marfan syndrome; Missense/nonsense CM032224; Fibrillinopathy; Missense/nonsense CM074801; Marfan syndrome; Missense/nonsense CM074854; Ectopia lentis; Missense/nonsense CM074855; Marfan syndrome; Missense/nonsense CM015151; Marfan syndrome; Missense/nonsense CM091205; Marfan syndrome; Missense/nonsense CM091206; Marfan syndrome; Missense/nonsense CM020685; Marfan syndrome; Missense/nonsense CM972799; Marfan syndrome; Missense/nonsense CM054709; Marfan syndrome; Missense/nonsense CM022783; Marfan syndrome; Missense/nonsense CM054690; Marfan syndrome; Missense/nonsense CM000701; Marfan syndrome; Missense/nonsense CM012598; Marfan syndrome; Missense/nonsense CM940759; Marfan syndrome; Missense/nonsense CM056956; Marfan syndrome; Missense/nonsense CM085417; Marfan syndrome; Missense/nonsense CM042034; Marfan syndrome; Missense/nonsense CM970506; Marfan syndrome; Missense/nonsense CM992320; Marfan syndrome; Missense/nonsense CM074832; Marfan syndrome, incomplete; Missense/nonsense CM077275; Marfan syndrome; Missense/nonsense CM990586; Marfan syndrome; Missense/nonsense CM054693; Marfan syndrome; Missense/nonsense CM042035; Marfan syndrome; Missense/nonsense CM074166; Marfan syndrome ?; Missense/nonsense CM990587; Marfan syndrome; Missense/nonsense CM055252; Marfan syndrome; Missense/nonsense CM970507; Marfan syndrome; Missense/nonsense CM074848; Marfan syndrome; Missense/nonsense CM930242; Marfan syndrome; Missense/nonsense CM074870; Aortic aneurysm; Missense/nonsense CM013917; Marfan syndrome; Missense/nonsense CM950438; Marfan syndrome; Missense/nonsense CM992321; Marfan syndrome; Missense/nonsense CM013918; Marfan syndrome; Missense/nonsense CM020134; Marfan syndrome; Missense/nonsense CM085422; Marfan syndrome; Missense/nonsense CM085415; Marfan syndrome; Missense/nonsense CM056957; Marfan syndrome; Missense/nonsense CM970508; Marfan syndrome; Missense/nonsense CM077925; Ectopia lentis; Missense/nonsense CM013919; Marfan syndrome; Missense/nonsense CM074802; Ectopia lentis; Missense/nonsense CM021994; Marfan syndrome; Missense/nonsense CM983862; Marfan syndrome; Missense/nonsense CM972800; Marfan syndrome; Missense/nonsense CM010883; Marfan syndrome; Missense/nonsense CM070116; Tall stature, association with; Missense/nonsense CM940760; Marfan syndrome; Missense/nonsense CM021591; Fibrillinopathy; Missense/nonsense CM023915; Marfan syndrome; Missense/nonsense CM054705; Marfan syndrome; Missense/nonsense CM054686; Marfan syndrome; Missense/nonsense CM992322; Marfan syndrome; Missense/nonsense CM077265; Marfan syndrome; Missense/nonsense CM023916; Marfan syndrome; Missense/nonsense CM040034; Marfan syndrome; Missense/nonsense CM021592; Marfan syndrome; Missense/nonsense CM970509; Marfan syndrome; Missense/nonsense CM021995; Marfan syndrome; Missense/nonsense CM021996; Marfan syndrome; Missense/nonsense CM021997; Marfan syndrome; Missense/nonsense CM085428; Marfan syndrome; Missense/nonsense CM021998; Marfan syndrome; Missense/nonsense CM073062; Ectopia lentis; Missense/nonsense CM054724; Marfan syndrome; Missense/nonsense CM960626; Marfan syndrome; Missense/nonsense CM960627; Marfan syndrome; Missense/nonsense CM085404; Marfan syndrome; Missense/nonsense CM930243; Marfan syndrome; Missense/nonsense CM021999; Marfan syndrome; Missense/nonsense CM067400; Marfan syndrome; Missense/nonsense CM074856; Marfan syndrome; Missense/nonsense CM022000; Marfan syndrome; Missense/nonsense CM950439; Marfan syndrome; Missense/nonsense CM021593; Marfan syndrome; Missense/nonsense CM940761; Marfan syndrome; Missense/nonsense CM055253; Marfan syndrome; Missense/nonsense CM074836; Marfan syndrome, incomplete; Missense/nonsense CM042036; Marfan syndrome; Missense/nonsense CM067389; Marfan syndrome; Missense/nonsense CM077248; Marfan syndrome; Missense/nonsense CM013920; Marfan syndrome; Missense/nonsense CM074865; Aortic aneurysm; Missense/nonsense CM022001; Marfan syndrome; Missense/nonsense CM013921; Marfan syndrome; Missense/nonsense CM055256; Marfan syndrome; Missense/nonsense CM054713; Marfan syndrome; Missense/nonsense CM077280; Marfan syndrome; Missense/nonsense CM054710; Marfan syndrome; Missense/nonsense CM042037; Marfan syndrome; Missense/nonsense CM003137; Marfan syndrome; Missense/nonsense CM983863; Marfan syndrome; Missense/nonsense CM067402; Marfan syndrome; Missense/nonsense CM085433; Marfan syndrome; Missense/nonsense CM066807; Marfan syndrome; Missense/nonsense CM077251; Marfan syndrome; Missense/nonsense CM074871; Marfan syndrome; Missense/nonsense CM065179; Marfan syndrome; Missense/nonsense CM972801; Marfan syndrome; Missense/nonsense CM077272; Marfan syndrome; Missense/nonsense CM042038; Marfan syndrome; Missense/nonsense CM972802; Marfan syndrome; Missense/nonsense CM930244; Marfan syndrome; Missense/nonsense CM022784; Marfan syndrome; Missense/nonsense CM042039; Marfan syndrome; Missense/nonsense CM085414; Marfan syndrome ?; Missense/nonsense CM952168; Marfan syndrome; Missense/nonsense CM054688; Marfan syndrome; Missense/nonsense CM022002; Marfan syndrome; Missense/nonsense CM014705; Marfan syndrome; Missense/nonsense CM013922; Marfan syndrome; Missense/nonsense CM074837; Aortic aneurysm; Missense/nonsense CM022003; Marfan syndrome; Missense/nonsense CM950440; Marfan syndrome; Missense/nonsense CM065180; Marfan syndrome; Missense/nonsense CM085418; Aortic aneurysm, thoracic; Missense/nonsense CM067395; Marfan syndrome; Missense/nonsense CM074810; Marfan syndrome, incomplete; Missense/nonsense CM091207; Marfan syndrome; Missense/nonsense CM074825; Marfan syndrome, incomplete; Missense/nonsense CM074811; Marfan syndrome; Missense/nonsense CM074813; Marfan syndrome; Missense/nonsense CM062714; Marfan syndrome; Missense/nonsense CM960628; Marfan syndrome; Missense/nonsense CM015152; Marfan syndrome; Missense/nonsense CM990588; Marfan syndrome; Missense/nonsense CM980726; Marfan syndrome; Missense/nonsense CM983864; Marfan syndrome; Missense/nonsense CM076184; Marfan syndrome; Missense/nonsense CM085429; Marfan syndrome; Missense/nonsense CM950441; Marfan syndrome; Missense/nonsense CM983865; Marfan syndrome; Missense/nonsense CM062715; Marfan syndrome; Missense/nonsense CM010035; Marfan syndrome; Missense/nonsense CM940762; Marfan syndrome; Missense/nonsense CM074821; Marfan syndrome, incomplete; Missense/nonsense CM014706; Marfan syndrome; Missense/nonsense CM010036; Marfan syndrome; Missense/nonsense CM972803; Marfan syndrome; Missense/nonsense CM085409; Marfan syndrome; Missense/nonsense CM062708; Marfan syndrome; Missense/nonsense CM970510; Marfan syndrome; Missense/nonsense CM040035; Marfan syndrome; Missense/nonsense CM055254; Marfan syndrome; Missense/nonsense CM960629; Marfan syndrome; Missense/nonsense CM960630; Marfan syndrome; Missense/nonsense CM056958; Marfan syndrome; Missense/nonsense CM960631; Marfan syndrome; Missense/nonsense CM013924; Marfan syndrome; Missense/nonsense CM013923; Marfan syndrome; Missense/nonsense CM054699; Marfan syndrome; Missense/nonsense CM020686; Marfan syndrome; Missense/nonsense CM960632; Marfan syndrome; Missense/nonsense CM960633; Marfan syndrome; Missense/nonsense CM950442; Marfan syndrome; Missense/nonsense CM960634; Marfan syndrome; Missense/nonsense CM950443; Marfan syndrome; Missense/nonsense HM971939; Marfan syndrome; Missense/nonsense CM972804; Marfan syndrome ?; Missense/nonsense CM020687; Marfan syndrome; Missense/nonsense CM078031; Marfan syndrome; Missense/nonsense CM992323; Marfan syndrome; Missense/nonsense CM074866; Ectopia lentis; Missense/nonsense CM950444; Marfan syndrome; Missense/nonsense CM074790; Marfan syndrome; Missense/nonsense CM077271; Marfan syndrome; Missense/nonsense CM042040; Marfan syndrome; Missense/nonsense CM013925; Marfan syndrome; Missense/nonsense CM972805; Marfan syndrome; Missense/nonsense CM055248; Marfan syndrome; Missense/nonsense CM010038; Marfan syndrome; Missense/nonsense CM960635; Marfan syndrome; Missense/nonsense CM930245; Marfan syndrome; Missense/nonsense CM055245; Marfan syndrome; Missense/nonsense CM950445; Aortic aneurysm; Missense/nonsense CM013926; Mitral valve prolapse; Missense/nonsense CM990589; Marfan syndrome; Missense/nonsense CM970511; Marfan syndrome; Missense/nonsense CM085419; Marfan syndrome; Missense/nonsense CM910154; Marfan syndrome; Missense/nonsense CM074857; Marfan syndrome; Missense/nonsense CM074851; Marfan syndrome; Missense/nonsense HM0656; Bicuspid aortic valve; Missense/nonsense CM960636; Marfan syndrome; Missense/nonsense CM054719; Marfan syndrome; Missense/nonsense CM960637; Marfan syndrome; Missense/nonsense CM074817; Marfan syndrome; Missense/nonsense CM980727; Marfan syndrome; Missense/nonsense CM940763; Marfan syndrome; Missense/nonsense CM970512; Marfan syndrome; Missense/nonsense CM992324; Marfan syndrome; Missense/nonsense CM970513; Marfan syndrome; Missense/nonsense CM983866; Marfan syndrome; Missense/nonsense CM067388; Marfan syndrome; Missense/nonsense CM980728; Marfan syndrome; Missense/nonsense CM972857; Marfan syndrome; Missense/nonsense CM020688; Marfan syndrome; Missense/nonsense CM990590; Marfan syndrome; Missense/nonsense CM081261; Marfan syndrome; Missense/nonsense CM054708; Marfan syndrome; Missense/nonsense CM060012; Shprintzen-Goldberg syndrome; Missense/nonsense CM074815; Marfan syndrome; Missense/nonsense CM940764; Marfan syndrome; Missense/nonsense CM055941; Marfan syndrome; Missense/nonsense CM010039; Marfan syndrome; Missense/nonsense CM940765; Marfan syndrome; Missense/nonsense CM074816; Marfan syndrome; Missense/nonsense CM950446; Marfan syndrome; Missense/nonsense CM004133; Marfan syndrome; Missense/nonsense CM972806; Marfan syndrome; Missense/nonsense CM054700; Marfan syndrome; Missense/nonsense CM990591; Marfan syndrome; Missense/nonsense CM091208; Marfan syndrome; Missense/nonsense CM980729; Marfan syndrome; Missense/nonsense CM085430; Marfan syndrome; Missense/nonsense CM020689; Marfan syndrome; Missense/nonsense CM054720; Marfan syndrome; Missense/nonsense CM972807; Marfan syndrome ?; Missense/nonsense CM091209; Marfan syndrome; Missense/nonsense CM055250; Marfan syndrome; Missense/nonsense CM010040; Marfan syndrome; Missense/nonsense CM074858; Marfan syndrome; Missense/nonsense CM077262; Marfan syndrome; Missense/nonsense CM972808; Marfan syndrome; Missense/nonsense CM085410; Marfan syndrome; Missense/nonsense CM054723; Marfan syndrome; Missense/nonsense CM077258; Marfan syndrome; Missense/nonsense CM040036; Marfan syndrome; Missense/nonsense CM010041; Marfan syndrome; Missense/nonsense CM992325; Marfan syndrome; Missense/nonsense CM054698; Marfan syndrome; Missense/nonsense CM983867; Marfan syndrome; Missense/nonsense CM013927; Marfan syndrome; Missense/nonsense CM972809; Marfan syndrome ?; Missense/nonsense CM074869; Marfan syndrome; Missense/nonsense CM077281; Marfan syndrome; Missense/nonsense CM020135; Marfan syndrome; Missense/nonsense CM992326; Marfan syndrome; Missense/nonsense CM040037; Marfan syndrome; Missense/nonsense CM043996; Marfan syndrome; Missense/nonsense CM062702; Marfan syndrome; Missense/nonsense CM040038; Marfan syndrome; Missense/nonsense CM077266; Marfan syndrome; Missense/nonsense CM950447; Marfan syndrome; Missense/nonsense CM077926; Ectopia lentis; Missense/nonsense CM077247; Marfan syndrome; Missense/nonsense CM040039; Marfan syndrome; Missense/nonsense CM054712; Marfan syndrome; Missense/nonsense CM012599; Marfan syndrome; Missense/nonsense CM992327; Marfan syndrome; Missense/nonsense CM054725; Marfan syndrome; Missense/nonsense CM970514; Marfan syndrome; Missense/nonsense CM010042; Marfan syndrome; Missense/nonsense CM010043; Marfan syndrome; Missense/nonsense CM004134; Marfan syndrome; Missense/nonsense CM983868; Marfan syndrome; Missense/nonsense CM054685; Marfan syndrome; Missense/nonsense CM074798; Marfan syndrome, incomplete; Missense/nonsense CM983869; Marfan syndrome; Missense/nonsense CM067398; Marfan syndrome; Missense/nonsense CM091210; Marfan syndrome; Missense/nonsense CM077255; Marfan syndrome; Missense/nonsense CM020690; Marfan syndrome; Missense/nonsense CM055242; Marfan syndrome; Missense/nonsense CM972810; Marfan syndrome; Missense/nonsense CM074814; Marfan syndrome; Missense/nonsense CM077267; Marfan syndrome; Missense/nonsense CM091211; Marfan syndrome ?; Missense/nonsense CM074842; Aortic aneurysm; Missense/nonsense CM980730; Marfan syndrome; Missense/nonsense CM062705; Marfan syndrome; Missense/nonsense CM065181; Marfan syndrome; Missense/nonsense CM940766; Marfan syndrome; Missense/nonsense CM065178; Marfan syndrome; Missense/nonsense CM001687; Marfan syndrome; Missense/nonsense CM077928; Ectopia lentis; Missense/nonsense CM074841; Marfan syndrome; Missense/nonsense CM013928; Ectopia lentis; Missense/nonsense CM085426; Marfan syndrome; Missense/nonsense CM010044; Marfan syndrome; Missense/nonsense CM993159; Marfan syndrome; Missense/nonsense CM040040; Marfan syndrome; Missense/nonsense CM054721; Marfan syndrome; Missense/nonsense CM055243; Marfan syndrome; Missense/nonsense CM940767; Marfan syndrome; Missense/nonsense CM013929; Marfan syndrome; Missense/nonsense CM930246; Marfan syndrome; Missense/nonsense CM062709; Marfan syndrome; Missense/nonsense CM013930; Marfan syndrome; Missense/nonsense CM074167; Weill-Marchesani syndrome; Missense/nonsense CM972811; Marfan syndrome; Missense/nonsense CM970515; Marfan syndrome; Missense/nonsense CM074803; Marfan syndrome; Missense/nonsense CM054701; Marfan syndrome; Missense/nonsense CM074862; Marfan syndrome, incomplete; Missense/nonsense CM067396; Marfan syndrome; Missense/nonsense CM013931; Marfan syndrome; Missense/nonsense CM077927; Ectopia lentis; Missense/nonsense CM003138; Marfan syndrome; Missense/nonsense CM920268; Marfan syndrome; Missense/nonsense CM054716; Marfan syndrome; Missense/nonsense CM062717; Marfan syndrome; Missense/nonsense CM972812; Marfan syndrome ?; Missense/nonsense CM992329; Marfan syndrome; Missense/nonsense CM085431; Marfan syndrome; Missense/nonsense CM992328; Marfan syndrome; Missense/nonsense CM085411; Marfan syndrome; Missense/nonsense CM077276; Marfan syndrome; Missense/nonsense CM074843; Marfan syndrome; Missense/nonsense CM983870; Marfan syndrome; Missense/nonsense CM091212; Marfan syndrome; Missense/nonsense CM055255; Marfan syndrome; Missense/nonsense CM085401; Marfan syndrome; Missense/nonsense CM067401; Marfan syndrome; Missense/nonsense CM020691; Marfan syndrome; Missense/nonsense CM045613; Marfan syndrome; Missense/nonsense CM040041; Marfan syndrome; Missense/nonsense CM077260; Marfan syndrome; Missense/nonsense CM074863; Marfan syndrome, incomplete; Missense/nonsense CM045410; Ectopia lentis; Missense/nonsense CM054694; Marfan syndrome; Missense/nonsense CM013932; Marfan syndrome; Missense/nonsense CM055244; Marfan syndrome; Missense/nonsense CM013933; Marfan syndrome; Missense/nonsense CM077279; Marfan syndrome; Missense/nonsense CM077249; Marfan syndrome; Missense/nonsense CM074859; Marfan syndrome; Missense/nonsense CM040042; Marfan syndrome; Missense/nonsense CM020935; Kyphoscoliosis; Missense/nonsense CM074823; Marfan syndrome; Missense/nonsense CM074827; Marfan syndrome, incomplete; Missense/nonsense CM062703; Marfan syndrome; Missense/nonsense CM022785; Marfan syndrome; Missense/nonsense CM022004; Marfan syndrome; Missense/nonsense CM074812; Marfan syndrome; Missense/nonsense CM074860; Marfan syndrome, incomplete; Missense/nonsense CM980731; Marfan syndrome; Missense/nonsense CM980732; Marfan syndrome; Missense/nonsense CM074808; Marfan syndrome; Missense/nonsense CM983871; Marfan syndrome; Missense/nonsense CM077256; Marfan syndrome; Missense/nonsense CM990592; Marfan syndrome; Missense/nonsense CM993160; Marfan syndrome; Missense/nonsense CM074864; Marfan syndrome; Missense/nonsense CM960638; Marfan syndrome; Missense/nonsense CM065177; Marfan syndrome; Missense/nonsense CM062710; Marfan syndrome; Missense/nonsense CM074849; Marfan syndrome; Missense/nonsense CM085406; Marfan syndrome; Missense/nonsense CM085423; Marfan syndrome; Missense/nonsense CM054711; Marfan syndrome; Missense/nonsense CM074829; Marfan syndrome; Missense/nonsense CM055241; Marfan syndrome; Missense/nonsense CM970516; Marfan syndrome; Missense/nonsense CM085421; Marfan syndrome; Missense/nonsense CM004135; Marfan syndrome; Missense/nonsense CM054717; Marfan syndrome; Missense/nonsense CM074789; Marfan syndrome, incomplete; Missense/nonsense CM022786; Marfan syndrome; Missense/nonsense CM013934; Marfan syndrome; Missense/nonsense CM980733; Marfan syndrome; Missense/nonsense CM013935; Marfan syndrome; Missense/nonsense CM022787; Marfan syndrome; Missense/nonsense CM950448; Marfan syndrome; Missense/nonsense CM055247; Marfan syndrome; Missense/nonsense CM055257; Marfan syndrome; Missense/nonsense CM090179; Marfan syndrome; Missense/nonsense CM972813; Marfan syndrome; Missense/nonsense CM074796; Marfan syndrome, incomplete; Missense/nonsense CM085407; Marfan syndrome; Missense/nonsense CM042041; Marfan syndrome; Missense/nonsense CM021594; Fibrillinopathy; Missense/nonsense CM054691; Marfan syndrome; Missense/nonsense CM021595; Fibrillinopathy; Missense/nonsense CM067397; Marfan syndrome; Missense/nonsense CM013936; Marfan syndrome; Missense/nonsense CM077264; Marfan syndrome; Missense/nonsense CM021596; Marfan syndrome; Missense/nonsense CM983872; Marfan syndrome; Missense/nonsense CM085432; Marfan syndrome; Missense/nonsense CM012600; Marfan syndrome; Missense/nonsense CM022005; Marfan syndrome; Missense/nonsense CM077270; Marfan syndrome; Missense/nonsense CM972814; Marfan syndrome; Missense/nonsense CM972815; Marfan syndrome; Missense/nonsense CM055258; Marfan syndrome; Missense/nonsense CM972816; Marfan syndrome; Missense/nonsense CM992330; Marfan syndrome; Missense/nonsense CM074852; Marfan syndrome; Missense/nonsense CM003139; Marfan syndrome; Missense/nonsense CM013937; Marfan syndrome; Missense/nonsense CM972817; Marfan syndrome; Missense/nonsense CM972818; Marfan syndrome; Missense/nonsense CM092467; Marfan syndrome; Missense/nonsense CM085420; Marfan syndrome; Missense/nonsense CM085412; Marfan syndrome; Missense/nonsense CM062713; Marfan syndrome; Missense/nonsense CM085424; Marfan syndrome; Missense/nonsense CM055246; Marfan syndrome; Missense/nonsense CM090449; Ectopia lentis; Missense/nonsense CM970517; Marfan syndrome; Missense/nonsense CM020692; Marfan syndrome; Missense/nonsense CM074840; Marfan syndrome, incomplete; Missense/nonsense CM020136; Marfan syndrome; Missense/nonsense CM970518; Marfan syndrome; Missense/nonsense CM983873; Marfan syndrome; Missense/nonsense CM950449; Marfan syndrome; Missense/nonsense CM074799; Marfan syndrome; Missense/nonsense CM940768; Marfan syndrome; Missense/nonsense CM003140; Marfan syndrome; Missense/nonsense CM067392; Marfan syndrome; Missense/nonsense CM074830; Marfan syndrome, incomplete; Missense/nonsense CM990593; Marfan syndrome; Missense/nonsense CM930247; Marfan syndrome; Missense/nonsense CM074805; Marfan syndrome; Missense/nonsense CM074833; Marfan syndrome; Missense/nonsense CM090450; Mitral valve prolapse; Missense/nonsense CM940769; Marfan syndrome; Missense/nonsense CM012601; Marfan syndrome; Missense/nonsense CM013938; Ectopia lentis; Missense/nonsense CM054687; Marfan syndrome; Missense/nonsense CM077259; Marfan syndrome; Missense/nonsense CM074818; Aortic aneurysm; Missense/nonsense CM074838; Marfan syndrome, incomplete; Missense/nonsense CM067390; Marfan syndrome; Missense/nonsense CM025496; Marfan syndrome; Missense/nonsense CM074846; Aortic aneurysm; Missense/nonsense CM074804; Marfan syndrome, incomplete; Missense/nonsense HM080072; Marfan syndrome; Missense/nonsense CM040043; Marfan syndrome; Missense/nonsense CM074826; Marfan syndrome, incomplete; Missense/nonsense CM013939; Marfan syndrome; Missense/nonsense CM003141; Marfan syndrome; Missense/nonsense CM992331; Marfan syndrome; Missense/nonsense CM022006; Marfan syndrome; Missense/nonsense CM920269; Marfan syndrome; Missense/nonsense CM054722; Marfan syndrome; Missense/nonsense CM013940; Marfan syndrome; Missense/nonsense CM074806; Marfan syndrome, incomplete; Missense/nonsense CM074839; Marfan syndrome, incomplete; Missense/nonsense CM972858; Marfan syndrome; Missense/nonsense CM067394; Marfan syndrome; Missense/nonsense CM067387; Marfan syndrome; Missense/nonsense CM074820; Ectopia lentis; Missense/nonsense CM022788; Marfan syndrome; Missense/nonsense CM970519; Marfan syndrome; Missense/nonsense CM993161; Marfan syndrome; Missense/nonsense CM950450; Marfan syndrome; Missense/nonsense CM056959; Marfan syndrome; Missense/nonsense CM972819; Marfan syndrome; Missense/nonsense CM077261; Marfan syndrome; Missense/nonsense CM074835; Ectopia lentis; Missense/nonsense CM074800; Marfan syndrome, incomplete; Missense/nonsense CM074850; Marfan syndrome; Missense/nonsense CM970520; Marfan syndrome; Missense/nonsense CM085402; Marfan syndrome; Missense/nonsense CM074868; Marfan syndrome, incomplete; Missense/nonsense CM074797; Aortic aneurysm; Missense/nonsense CM042042; Marfan syndrome; Missense/nonsense CM020693; Marfan syndrome; Missense/nonsense CM074861; Marfan syndrome, incomplete; Missense/nonsense CM950451; Marfan syndrome; Missense/nonsense CM091213; Marfan syndrome; Missense/nonsense CM022007; Marfan syndrome; Missense/nonsense CM022008; Marfan syndrome; Missense/nonsense CM067405; Marfan syndrome; Missense/nonsense CM055249; Marfan syndrome; Missense/nonsense CM074168; Marfan syndrome ?; Missense/nonsense CM993162; Marfan syndrome; Missense/nonsense CM013941; Marfan syndrome; Missense/nonsense CM020137; Marfan syndrome; Missense/nonsense CM062706; Marfan syndrome; Missense/nonsense CM040044; Marfan syndrome; Missense/nonsense CM940770; Marfan syndrome; Missense/nonsense CM054696; Marfan syndrome; Missense/nonsense CM062711; Marfan syndrome; Missense/nonsense CM077268; Marfan syndrome; Missense/nonsense CM091214; Marfan syndrome; Missense/nonsense CM077246; Marfan syndrome; Missense/nonsense CM021597; Marfan syndrome; Missense/nonsense CM021598; Marfan syndrome; Missense/nonsense CM085425; Marfan syndrome; Missense/nonsense CM062716; Marfan syndrome; Missense/nonsense CM074853; Marfan syndrome, incomplete; Missense/nonsense CM020138; Aortic aneurysm; Missense/nonsense CM014707; Marfan syndrome; Missense/nonsense CM086598; Marfan syndrome with intracranial hypertension ?; Missense/nonsense CM970521; Marfan syndrome; Missense/nonsense CM020373; Marfan syndrome; Missense/nonsense CM067406; Marfan syndrome; Missense/nonsense CM025899; Marfan syndrome; Missense/nonsense CM054689; Marfan syndrome; Missense/nonsense CM054718; Marfan syndrome; Missense/nonsense CM940771; Marfan syndrome; Missense/nonsense CM025900; Marfan syndrome; Missense/nonsense CM077253; Marfan syndrome; Missense/nonsense CM074794; Marfan syndrome, incomplete; Missense/nonsense CM074795; Marfan syndrome; Missense/nonsense CM000514; Marfan syndrome; Missense/nonsense CM074791; Marfan syndrome, incomplete; Missense/nonsense CM000515; Marfan syndrome; Missense/nonsense CM054714; Marfan syndrome; Missense/nonsense CM012602; Marfan syndrome; Missense/nonsense CM074847; Marfan syndrome, incomplete; Missense/nonsense CM074809; Marfan syndrome; Missense/nonsense CM074822; Marfan syndrome, incomplete; Missense/nonsense CM074824; Marfan syndrome; Missense/nonsense CM077263; Marfan syndrome; Missense/nonsense CM085413; Marfan syndrome; Missense/nonsense CM077254; Marfan syndrome; Missense/nonsense CM054695; Marfan syndrome; Missense/nonsense CM054703; Marfan syndrome; Missense/nonsense CM074867; Marfan syndrome; Missense/nonsense CM972859; Marfan syndrome; Missense/nonsense CM074844; Marfan syndrome; Missense/nonsense CM086599; Marfan syndrome with intracranial hypertension; Missense/nonsense CM077269; Marfan syndrome; Missense/nonsense CM013942; Marfan syndrome; Missense/nonsense CM022009; Marfan syndrome; Missense/nonsense CM972820; Marfan syndrome; Missense/nonsense CM054697; Marfan syndrome; Missense/nonsense CM056955; Marfan syndrome; Missense/nonsense CM055259; Marfan syndrome; Missense/nonsense CM091215; Marfan syndrome; Missense/nonsense CM972821; Marfan syndrome; Missense/nonsense CM972822; Marfan syndrome; Missense/nonsense CM077250; Marfan syndrome; Missense/nonsense CM020694; Marfan syndrome; Missense/nonsense CM042043; Marfan syndrome; Missense/nonsense CM970522; Marfan syndrome; Missense/nonsense CM000516; Marfan syndrome; Missense/nonsense CM015153; Marfan syndrome; Missense/nonsense CM950452; Marfan syndrome; Missense/nonsense CM054706; Marfan syndrome; Missense/nonsense CM020695; Marfan syndrome; Missense/nonsense CM020696; Marfan syndrome; Missense/nonsense CM020139; Marfan syndrome; Missense/nonsense CM077277; Marfan syndrome; Missense/nonsense CM062704; Marfan syndrome; Missense/nonsense CM043997; Marfan syndrome; Missense/nonsense CM020697; Marfan syndrome; Missense/nonsense CM013943; Marfan syndrome; Missense/nonsense CM930248; Marfan syndrome; Missense/nonsense CM077257; Marfan syndrome; Missense/nonsense CM972823; Marfan syndrome; Missense/nonsense CM040045; Marfan syndrome; Missense/nonsense CM013944; Marfan syndrome; Missense/nonsense CM950453; Marfan syndrome; Missense/nonsense CM077252; Marfan syndrome; Missense/nonsense CM920270; Marfan syndrome; Missense/nonsense CM085408; Marfan syndrome; Missense/nonsense CM940772; Marfan syndrome; Missense/nonsense CM021599; Marfan syndrome; Missense/nonsense CM067399; Marfan syndrome; Missense/nonsense CM054707; Marfan syndrome; Missense/nonsense CM067391; Marfan syndrome; Missense/nonsense CM074819; Marfan syndrome, incomplete; Missense/nonsense CS022870; Marfan syndrome; Splicing CS075128; Marfan syndrome, incomplete; Splicing CS972828; Marfan syndrome; Splicing CS983897; Marfan syndrome; Splicing CS020808; Marfan syndrome; Splicing CS077352; Marfan syndrome; Splicing CS057006; Marfan syndrome; Splicing CS075129; Marfan syndrome, incomplete; Splicing CS057007; Marfan syndrome; Splicing CS042163; Marfan syndrome; Splicing CS042164; Marfan syndrome; Splicing CS040142; Marfan syndrome; Splicing CS077353; Marfan syndrome; Splicing CS013966; Marfan syndrome; Splicing CS022103; Marfan syndrome; Splicing CS021751; Marfan syndrome; Splicing CS092468; Marfan syndrome; Splicing CS040143; Marfan syndrome; Splicing CS075130; Marfan syndrome; Splicing CS961584; Marfan syndrome; Splicing CS055580; Marfan syndrome; Splicing CS013964; Marfan syndrome; Splicing CS040141; Marfan syndrome; Splicing CS930804; Marfan syndrome; Splicing CS021752; Marfan syndrome; Splicing CS013967; Marfan syndrome; Splicing CS054891; Marfan syndrome; Splicing CS091218; Marfan syndrome; Splicing CS011042; Marfan syndrome; Splicing CS075131; Marfan syndrome; Splicing CS077354; Marfan syndrome; Splicing CS941484; Marfan syndrome; Splicing CS077355; Marfan syndrome; Splicing CS055581; Marfan syndrome; Splicing CS982191; Marfan syndrome; Splicing CS075132; Marfan syndrome ?; Splicing CS040144; Marfan syndrome; Splicing CS077356; Marfan syndrome; Splicing CS962717; Marfan syndrome; Splicing CS040145; Marfan syndrome; Splicing CS961585; Marfan syndrome; Splicing CS055582; Marfan syndrome; Splicing CS951411; Marfan syndrome; Splicing CS075133; Marfan syndrome; Splicing CS972829; Marfan syndrome; Splicing CS991391; Marfan syndrome; Splicing CS054892; Marfan syndrome; Splicing CS951412; Marfan syndrome; Splicing CS075134; Marfan syndrome; Splicing CS075135; Marfan syndrome; Splicing CS054893; Marfan syndrome; Splicing CS013968; Marfan syndrome; Splicing CS972830; Marfan syndrome; Splicing CS075136; Marfan syndrome, incomplete; Splicing CS075138; Marfan syndrome, incomplete; Splicing CS075137; Marfan syndrome; Splicing CS991392; Marfan syndrome; Splicing CS022871; Marfan syndrome; Splicing CS054894; Marfan syndrome; Splicing CS067498; Marfan syndrome; Splicing CS054895; Marfan syndrome; Splicing CS077357; Marfan syndrome; Splicing CS091220; Marfan syndrome; Splicing CS077358; Marfan syndrome; Splicing CS077359; Marfan syndrome; Splicing CS075139; Marfan syndrome; Splicing CS022104; Marfan syndrome; Splicing CS021753; Marfan syndrome; Splicing CS057008; Marfan syndrome; Splicing CS085780; Marfan syndrome ?; Splicing CS077360; Marfan syndrome; Splicing CS013455; Marfan syndrome; Splicing CS951413; Marfan syndrome; Splicing CS065549; Marfan syndrome; Splicing CS085781; Marfan syndrome; Splicing CS055583; Marfan syndrome; Splicing CS024163; Marfan syndrome; Splicing CS042165; Marfan syndrome; Splicing CS055584; Marfan syndrome; Splicing CS075140; Marfan syndrome; Splicing CS075142; Marfan syndrome; Splicing CS022105; Marfan syndrome; Splicing CS075141; Marfan syndrome; Splicing CS971734; Marfan syndrome; Splicing CS085782; Marfan syndrome ?; Splicing CS014763; Marfan syndrome; Splicing CS075143; Marfan syndrome; Splicing CS930805; Marfan syndrome; Splicing CS077361; Marfan syndrome; Splicing CS077362; Marfan syndrome; Splicing CS021754; Marfan syndrome; Splicing CS961586; Marfan syndrome; Splicing CS961587; Marfan syndrome; Splicing CS000588; Marfan syndrome; Splicing CS075144; Marfan syndrome; Splicing CS085783; Marfan syndrome; Splicing CS054896; Marfan syndrome; Splicing CS054897; Marfan syndrome; Splicing CS020807; Marfan syndrome; Splicing CS085784; Marfan syndrome ?; Splicing CS930806; Marfan syndrome; Splicing CS972831; Marfan syndrome; Splicing CS930807; Marfan syndrome; Splicing CS086156; Marfan syndrome; Splicing CS042162; Marfan syndrome; Splicing CS075145; Marfan syndrome; Splicing CS972827; Marfan syndrome; Splicing CS013965; Marfan syndrome; Splicing |
| GWASdb (count: 86) (view all) | rs1042078; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm
rs16960901; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs12916536; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1467953; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs9920570; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2015637; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs3929051; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm
rs8034591; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2042747; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs113577372; Breast cancer (ER positive); breast cancer rs12595828; Type 2 diabetes; type 2 diabetes mellitus rs2303502; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2303500; Drug response to Etoposide; Null rs2303500; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs8029993; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs4775762; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2555470; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1812873; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs714290; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2466792; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2433394; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs10519177; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs4774517; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs7174973; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs9806323; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2413906; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs11634866; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs11635140; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs11070644; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs11635605; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs6493325; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs140605; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs9806163; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2306352; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs8034829; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs16961065; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs6493327; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs7184016; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs755251; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs11634611; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs6493328; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs8026752; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs598029; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs8041668; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs589668; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs595244; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs626492; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs683282; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2437948; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs12441775; Skin pigmentation; skin disease rs2448485; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs10744953; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs682938; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1678978; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs627634; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1354738; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs686861; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2456475; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1506524; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs655015; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs682737; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs668842; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs920184; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2455925; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs591519; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1678979; Urinary metabolites; kidney disease rs1678979; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs636178; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2466790; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1678981; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1876206; Breast cancer; breast cancer rs1876206; Nasopharyngeal carcinoma; nasopharynx carcinoma rs1678982; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs612617; Urinary metabolites; kidney disease rs612617; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1807301; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1036476; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1036477; Skin pigmentation; skin disease rs1036477; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2118181; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs689304; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2437946; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs625034; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs1678983; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs2247876; Thoracic aortic aneurysms and dissections; thoracic aortic aneurysm rs7183641; Multiple complex diseases; Null |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 20) (view all) | 1037 NECKMIPSLCTHGKC dbPAF
1103 KCDEGYESGFMMMKN dbPAF 1535 DTRSGNCYLDIRPRG dbPAF 2047 CPEGFSLSSSGRRCQ dbPAF 2048 PEGFSLSSSGRRCQD dbPAF 2049 EGFSLSSSGRRCQDL dbPAF 2297 VDENECQTKPGICEN dbPAF
2702 GNPEPPVSGEMDDNS dbPAF 2709 SGEMDDNSLSPEACY dbPAF 2788 LPALTTLTNHNRYLI dbPAF 2813 INQKEGISYLHFTKK dbPAF 2826 KKKPVAGTYSLQISS dbPAF 2827 KKPVAGTYSLQISST dbPAF 2832 GTYSLQISSTPLYKK dbPAF 2834 YSLQISSTPLYKKKE dbPAF 2837 QISSTPLYKKKELNQ dbPAF 2849 LNQLEDKYDKDYLSG dbPAF 346 ALTNGRCSNQLPQSI dbPAF 352 CSNQLPQSITKMQCC dbPAF 962 LETCFLRYEDEECTL dbPAF |
| Acetylation (count: 1) | 799 CPKGFIYKPDLKTCE PLMD |
| Ubiquitination (count: 5) | 1096 TPGDFECKCDEGYES PLMD
2246 REDRRMCKDEDECEE PLMD 2255 EDECEEGKHDCTEKQ PLMD 2261 GKHDCTEKQMECKNL PLMD 599 GSFKCICKPGFQLAS PLMD |
| Sumoylation (count: 28) (view all) | 1017 RGPGFATKEITNGKP PLMD
1023 TKEITNGKPFFKDIN PLMD 1027 TNGKPFFKDINECKM PLMD 1033 FKDINECKMIPSLCT PLMD 1043 PSLCTHGKCRNTIGS PLMD 1317 GYSGKKGKTGCTDIN PLMD 1836 GSYRCDCKPGYRFTS PLMD
2064 RMSYCYAKFEGGKCS PLMD 2069 YAKFEGGKCSSPKSR PLMD 2246 REDRRMCKDEDECEE PLMD 2298 DENECQTKPGICENG PLMD 2388 QGTVAFKKLCPHGRG PLMD 2407 GADIDECKVIHDVCR PLMD 278 CKCPAGHKLNEVSQK PLMD 2805 GNEDGFFKINQKEGI PLMD 2809 GFFKINQKEGISYLH PLMD 2821 YLHFTKKKPVAGTYS PLMD 2848 ELNQLEDKYDKDYLS PLMD 2851 QLEDKYDKDYLSGEL PLMD 2863 GELGDNLKMKIQVLL PLMD 2865 LGDNLKMKIQVLLH* PLMD 54 GGGHDALKGPNVCGS PLMD 568 FHVTRDGKNCEDMDE PLMD 599 GSFKCICKPGFQLAS PLMD 612 ASDGRYCKDINECET PLMD 666 STCYGGYKRGQCIKP PLMD 799 CPKGFIYKPDLKTCE PLMD 904 GKGYSRIKGTQCEDI PLMD |
| Glycation (count: 1) | 1300 SGTCENTKGSFICHC PLMD |
| Network | Interaction | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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