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Aortic Aneurysm, Familial Abdominal, 1
OMIM
The apparent association of a PAI1 polymorphism (4G/5G; 173360.0002) with familial AAA (see MOLECULAR GENETICS) was another observation that questioned the idea that atherosclerosis causes AAAs: whereas the 4G variant of PAI1 shows a protective role in AAA, it is undesirable in the context of coronary artery disease and atherosclerosis (Harris, 2001). ... Yoon et al. (1999) found that PAI1 and MMP9 genotypes, including the PAI1 4G/5G polymorphism (173360.0002), did not associate with aneurysms. Noting that the 5G variant of the PAI1 4G/5G polymorphism is associated with less inhibition of the plasminogen activators and, consequently, increased conversion of plasminogen to plasmin and increased activation of MMPs, Rossaak et al. (2000) studied the ratios of the 4G:5G genotypes in 190 patients with AAA, including 39 patients with strong family histories, and 163 controls, and found that 26% of patients with familial AAA were homozygous 5G compared with 13% of the control population.MMP9, MMP14, SOD2, DAB2IP, ELN, AGT, AGTR1, ACE2, PTGS2, LOX, COL3A1, NCF1, CCL2, MMP2, ACE, MMP3, SERPINE1, CSF2, TIMP4, SELL, P2RY12, NOS2, EHF, LRP1, TGFBR2, LDLR, TGFBR1, FBN1, IL6R, TGFB3, ERG, MYH11, PCIF1, MYLK, SMAD3, SLC30A8, CDKN2B-AS1, TGFB2, ACTA2, NSMCE2, MAT2A, PRKG1, VPS51, CRP, ANKRD44, MTHFR, FOXE3, MFAP5, SPP1, TIMP1, IL6, PTPN22, TNF, ANGPT2, ANKRD44-IT1, IL10, APOE, IL1B, TIMP2, HIF1A, TIMP3, TNFRSF11B, PLG, IL1A, REN, MAPK8, IL17A, HLA-DRB1, SMUG1, HMOX1, CST3, TGFB1, PPARG, LEP, NOTCH1, VEGFA, LCN2, SIRT1, SORT1, THBD, ACTB, COX2, MMP12, MTCO2P12, MPO, TLR4, MIR145, CASP1, IFNG, PCSK9, AR, CD68, MAPK3, CXCL8, DPP4, ACSS2, DCN, GCG, LGALS3, NOX4, LPA, LRP5, MMP13, IL18, CPB2, MIR15A, CCR5, CDKN2A, PIK3CB, PIK3CD, PIK3CG, SERPINF2, RIPK1, MIR205, BGN, CXCL12, VCAM1, STAT3, TP53, ADAM17, TAGLN, ALOX5, AGER, THBS1, PIK3CA, HMGB1, AIM2, RBM45, CTSK, NOS3, CCN2, SERPINF1, NLRP3, PCYT1A, UQCRFS1, ADIPOQ, SELENOP, VDR, MMP10, IL4, IL1RN, KLF4, TXN, CXCR4, IFNA13, PLA2G15, ICAM1, CCN3, HP, CXCR2, PLA2G7, PGR, MAPK1, SERPINA1, RALBP1, MFAP4, CYSLTR1, FOXO4, PECAM1, PDGFA, PRKAA2, NHS, MPRIP, MMP7, LTBP4, RIPK3, JUN, ITGAX, MOK, MMP8, RENBP, FBLN5, PLAU, IFNA1, VCAN, FGF2, ACCS, MIR155, CTLA4, MIR33A, FCGR3B, FCGR3A, MIR30C2, MIR30A, F10, CAT, MIR29B2, CTSS, MIR29B1, ESR1, BAK1, ELAVL2, ELANE, EGR1, BAX, BCL2, EHMT1, ADM2, MIR21, DHFR, MIR195, CASP5, CYBB, CYP19A1, SMYD2, CSTB, CAD, GLP1R, HLA-A, GZMB, MAPK14, HLA-B, IL23A, DUOX1, PGR-AS1, CETP, FOXP3, ZGLP1, CCR2, HLA-DQA1, HLA-DRB3, APOA1, ACR, CERNA3, DUOX2, CDKN2B, PLA2G10, AAAS, MIR191, SPARCL1, MSC, SLC33A1, KAT2B, MIR183, RECK, IL18R1, MIR146A, MIR141, MIR147A, APLN, MBD4, MBD2, MIR126, MIR15B, KYNU, TNFSF14, TP63, CCL4L1, SERPINA13P, FCN3, ARHGEF2, ZNF148, FGF23, MIR455, TWIST1, HSP90B1, CRISP2, MIR545, TNFAIP6, POTEF, TMSB4X, C20orf181, MIR1260A, AAA1, LUCAT1, LINC00540, RAB4B-EGLN2, TP53COR1, TM7SF2, CXADRP1, TYROBP, NR4A3, UCP2, MIR221, KAT6A, MIR26A1, AIMP2, PXDN, ARMH1, ZBTB16, ZIC3, XBP1, VWF, VTN, VIM, MIR196B, FCMTE2, MIR363, ARSI, PYCARD, HCAR2, MYDGF, STARD7, MCF2L2, WDTC1, MMRN1, PCBP4, CARD8, ADAMTS5, ADAMTS8, CXCL16, GAS5, ZNF335, TSPYL2, SLC28A3, XYLT1, EBNA1BP2, IFIH1, UTS2, RETN, PAG1, PPARGC1A, ADCY10, MCTS1, MCAT, NOX1, POLDIP2, LRP10, RNF19A, TLR3, DDX58, SLC25A37, IL17D, PADI4, KAT6B, GNG2, DYM, IARS2, HEY2, ANGPTL2, ROBO3, HCST, KLHL35, SCO2, EGLN2, EGLN3, NCOR1, CCL4L2, PTGES, GDF15, SETD2, TIRAP, NTN1, GRAP2, TDRD10, OSCP1, FAM3D, PRSS55, ADCY10P1, TRIP13, IL27, NR1I3, HDAC5, HPSE, EBI3, CXCR6, POSTN, FSD1, DHX40, ZC3H12A, COL18A1, FSD1L, KAT8, AHSA1, SPZ1, ATG7, LANCL1, ABCC11, IL33, RABEPK, TRIM13, TSHZ1, ADAMTS1, SERPINA3, TLR2, EP300, EGFR, EFNA5, PHC1, E2F4, DNMT3A, DNMT1, DNASE1, DECR1, DDIT3, CYP2J2, CXADR, CX3CR1, CTSL, CTSH, CTSB, CSF1, CRK, CREBBP, CORT, COL5A2, COL1A2, CNN2, LTB4R, EIF4E, ESR2, TK1, ETS1, HDAC1, GYPE, GYPB, GYPA, GPX4, UTS2R, GAPDH, GABPA, GAA, MTOR, FOSB, FOS, FLT1, FLNA, FOXO1, FCGRT, FCGR2B, FCER1A, FBLN2, PTK2B, FABP4, F3, EZH2, CCR7, CCR6, CMA1, CGA, ARNTL, ARG1, ABCC6, AQP1, FASLG, APRT, APOH, ANXA2, ANGPT1, ALOX5AP, AKT1, AHCY, AGTR2, AEBP1, AP2A1, ADRB2, ADRA2B, PARP1, ADM, ADAM10, ADAM8, ACLY, ABO, ARR3, ARSA, ATM, CD14, CTSC, CD69, CD59, CD44, CD40LG, CD40, CD36, CD28, CD22, CD19, CD8A, AVP, CD1D, RUNX2, CAV1, CASR, CASP8, MYRF, C3, BTK, KLF5, BLVRA, HLA-DOA, HLA-G, HMGCR, SERPINA5, OPN1LW, PLAAT4, PVT1, PTX3, PTPRC, PTH, PTGER4, PTEN, PSMD7, PSMB8, PRTN3, PROC, PRKAR1A, PRKAB1, PRKAA1, PPIA, CTSA, PPARA, ABCA1, PLAT, PIN1, PF4, PEPD, S100A8, CCL4, CCL8, SRD5A1, TFAP2A, PRDX2, TAF1, ABCC8, STK11, STIM1, STAT5B, STAT5A, STAT1, SRY, SPG7, CCL11, SOX9, SOD1, SMARCA4, SLC16A1, SLC5A2, SHBG, SELP, CX3CL1, CCL20, CCL18, PDE3B, CNTN3, HNF4A, SERPINB2, KLK1, JUND, JUNB, ITGB2, ITGAM, ISG20, IL13, IL12B, IL9, CXCR1, IL2RA, IL2, IL1R1, IGKC, ICAM2, IARS1, HSPG2, HSPD1, HSPA5, HES1, HPN, HPGD, SLC29A2, RPSA, LTA4H, LTB, PPP1R12A, PRDX1, OA3, NRAS, NPPB, NOTCH3, NONO, NKTR, NFIB, NFE2L2, NF1, MYO9B, LTC4S, MUC5AC, MTRR, MTHFD1, MNDA, MMP1, NR3C2, MIF, MFAP1, MDK, MCAM, H3P28
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Hypothyroidism, Congenital, Nongoitrous, 4
OMIM
In a 4-month-old girl with congenital nongoitrous hypothyroidism, born of consanguineous parents, Pohlenz et al. (2002) identified homozygosity for a splice site mutation (IVS2+5G-A; 188540.0005) in the TSHB gene. ... Borck et al. (2004) identified homozygosity for the IVS2+5G-A splice site mutation in 4 children with congenital hypothyroidism from 2 consanguineous Turkish families.
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Alzheimer Disease 9, Susceptibility To
OMIM
A significant association was also found for a splice site variant (c.5570+5G-C; rs200538373) that was shown to cause premature termination (OR 1.91, p = 3.8 x 10(-6)). ... The SNP rs78117248 was in linkage disequilibrium with GWAS SNPs rs3764650, rs4147929, and rs3752246; regression analysis removed the association between the GWAS SNPs and disease. In the Belgian study, the c.5570+5G-C variant identified by Steinberg et al. (2015) occurred at a frequency of more than 1% in both patients and controls, and was not associated with AD.
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Long Qt Syndrome 12
OMIM
In addition to the SNTA1 missense mutation, affected members of this family also carried a variant of unknown significance in the KCNQ1 gene (607542), IVS7+5G-A. INHERITANCE - Autosomal dominant CARDIOVASCULAR Heart - Prolonged QT interval on electrocardiogram - Ventricular fibrillation MISCELLANEOUS - Syncopal episodes - Risk of sudden death due to cardiac arrhythmia MOLECULAR BASIS - Caused by mutation in the alpha-1 syntrophin gene (SNTA1, 601017.0001 ) ▲ Close
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Hypomagnesemia With Secondary Hypocalcemia
Wikipedia
Reference Nucleotide Amino acid c.C166T R56X N-terminus [1] c.C422T S141L N-terminus No [2] , [3] , [4] , [5] c.G469T E157X N-terminus [4] c.T521G I174R N-terminus [6] c.668delA D223fsX263 N-terminus [4] c.1010+5G→C Splicing N-terminus [1] c.A1060C T354P N-terminus [6] c.1134+5G→A Splicing N-terminus [6] c.1208-1G→A Splicing N-terminus [4] c.1280delA H427fsX429 N-terminus No [2] , [4] c.1308+1G→A Splicing N-terminus [4] c.C1437A Y479X N-terminus [6] c.C1450T R484X N-terminus [1] c.C1769G S590X N-terminus No [2] , [4] , [7] c.del1796-1797 P599fsX609 N-terminus [4] c.2009+1G→A Splicing N-terminus [1] , [6] c.G2120A C707Y N-terminus [6] c.2207delG R736fsX737 N-terminus No [2] , [4] , [7] c.2537-2A→T Splicing N-terminus [4] c.2667+1G→A Splicing [2] , [4] c.C2782T R928X M3 No [4] c.del Ex 21 M4 [4] c.Del2831-2832insG I944fsX959 M4-M5 [4] c.3209-68A→G Splicing [1] c.del Ex 22 + 23 M5-6 [4] C.3537-1G→A Splicing [2] , [4] c.3779-91del Q1260fsX1283 C-terminus [2] , [4] c.del Ex 25 - 27 C-terminus [4] c.del Ex 26 Y1533X C-terminus No [4] c.5017-18delT L1673fsX1675 C-terminus No [4] c.del Ex 31 + 32 C-terminus No [4] c.5057+2T→C Splicing C-terminus [4] c.A5775G Splicing C-terminus [4] Diagnosis [ edit ] Diagnosis typically occurs during the first 6 months of life due to characteristic neurological symptoms.
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Parkinson Disease 22, Autosomal Dominant
OMIM
Screening of 340 further index cases with autosomal dominant Parkinson disease by Sanger sequencing detected another patient with the T61I variant as well as an arg145 to gln (R145Q; 616244.0002) and c.300+5G-A (616244.0003) mutation in 1 patient each.
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Child Syndrome
Wikipedia
It is mixed as follows: to make 250 ml: Grind up lovastatin tablets 5g (10-20-40-80 mg); mix with cholesterol NF powder (NDC# 51927-1203-00, PCCA) 5g; mix with preserved water while mixing (eventually mixing for 1/2 hour with electronic mortar and pestle) to bring to full volume with preserved water. 8 oz Epidemiology [ edit ] Frequency [ edit ] CHILD syndrome is a rare disorder with only 60 recorded cases worldwide thus far in literature.
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Tyrosinemia Type I
GeneReviews
Targeted analysis for the p.Pro261Leu pathogenic variant can be performed first in individuals of Ashkenzai Jewish ancestry; this variant accounts for more than 99% of the pathogenic variants in this population [Elpeleg et al 2002]. The pathogenic variant c.1062+5G>A (IVS12+5 G>A) accounts for 87.9% of pathogenic variants in the French Canadian population [Poudrier et al 1996]. The four common FAH pathogenic variants – c.1062+5G>A (IVS12+5 G>A), c.554-1G>T (IVS6-1 G>T), c.607-6T>G (IVS7-6 T>G), and p.Pro261Leu – account for approximately 60% of pathogenic variants in tyrosinemia type I in the general US population [CR Scott, unpublished data]. ... Two regions of the world have a higher than expected frequency of tyrosinemia type I due to the increased frequency of certain pathogenic variants resulting from a founder effect: In the Scandanavian countries (c.1062+5G>A (IVS 12+5 G>A), p.Gly337Ser, and/or p.249HisfsTer5.5) and in Finland (p.Trp262Ter), the birth prevalence is estimated at 1:74,000 and 1:60,000 live births, respectively [Bliksrud et al 2012]. A founder effect from colonization by French settlers is present in the province of Quebec, Canada. The c.1062+5G>A (IVS12+5 G>A) pathogenic variant accounts for 87% of allelic variants in this population.
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Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
OMIM
They found an intronic point mutation, 1882+5G-A (300300.0004), leading to skipping of an exon located in the tyrosine kinase domain.
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Immunodeficiency 19
OMIM
Gil et al. (2011) identified a homozygous splice-site mutation in the CD3D gene (IVS2+5G-A; 186790.0003) in the 2 unrelated Ecuadorian children they reported with IMD19.
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Adrenal Fatigue
Wikipedia
Adrenal Fatigue from the Endocrine Society v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.
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Phantom Vibration Syndrome
Wikipedia
Retrieved September 4, 2011 . v t e Mobile phones mobile networks , protocols Channel capacity Frequencies Multi-band Network operator list Roaming Signal SIM card dual SIM SIM lock Standards comparison Tethering VoIP WAP XHTML-MP generations analogue : 0G 1G digital : 2G 3G adoption 3.5G 4G 4.5G 5G 6G general operation Features GSM services History Operating system Security phone cloning Telephony airplane mode Text messaging SMS MMS RCS Spam Tracking Web browsing mobile devices Manufacturers 3D phone Camera phone Car phone Feature phone Projector phone Satellite phone Smartphone form factors Bar Flip Phablet Slider Smartwatch smartphones Android devices rooting BlackBerry 10 iPhone iOS jailbreaking Open-source mobile phones Symbian devices Windows Phone devices mobile specific software apps Development Distribution Management Cloud computing commerce Banking Marketing advertising campaigns Payments contactless donating Ticketing content Blogging Email Gambling Gaming Health Instant messaging Learning Music News Search local Social address book Television culture Box breaking Charms Comics Dating Japanese culture Novels Ringtones silent mode Selfie Txt-spk Wallpaper environment and health BlackBerry thumb Driving safety Electronic waste External power supply Mental health from overuse Phantom vibration syndrome Radiation and health Recycling law Carrier IQ Legality of recording by civilians Mobile phones in prison Photography and the law Telephone tapping Texting while driving USA use restrictions while driving Category Portal
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Leaky Gut Syndrome
Wikipedia
PMID 27435372 . v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.
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Wilson's Temperature Syndrome
Wikipedia
Orlando Sentinel . v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.
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Candida Hypersensitivity
Wikipedia
Retrieved 18 January 2014 . v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.
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Supravalvular Aortic Stenosis
OMIM
In addition, molecular analysis of patient fibroblasts showed that the 2044+5G-C (130160.0020) mutant allele encodes an aberrant shorter form of the elastin polypeptide that may hamper the normal assembly of elastin fibers in a dominant-negative manner.
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Hutchinson-Gilford Progeria Syndrome
GeneReviews
Classic Genotype HGPS and Nonclassic Genotype HGPS: Causative LMNA Variants and Comparative Clinical Phenotypes View in own window Genotype LMNA Pathogenic Variant (Predicted Protein Change) Phenotypic Features Compared to Classic HGPS 1 # of Affected Persons Identified Reference Classic HGPS c.1824C>T (p.Gly608=) 2 See footnote 3 113 Eriksson et al [2003], De Sandre-Giovannoli et al [2003] Nonclassic HGPS c.1822G>A (p.Gly608Ser) Moderate 5 Eriksson et al [2003], PRF c.1821G>A (p.Val607=) 2 Severe; neonatal progeria 3 Moulson et al [2007], Reunert et al [2012], PRF c.1968G>A (p.Gln656=) 2 Very mild 2 Hisama et al [2011], Barthélémy et al [2015] c.1968+1G>C Severe 2 Iqbal & Iftikhar [2008], PRF c.1968+1G>A Severe 4 Moulson et al [2007], Navarro et al [2004], PRF c.1968+2T>A Mild 2 Bar et al [2017], PRF c.1968+2T>C Mild 1 PRF c.1968+5G>A Very mild 2 Hisama et al [2011], PRF c.1968+5G>C Moderate 3 PRF HGPS = Hutchinson-Gilford progeria syndrome; PRF = Progeria Research Foundation Diagnostic Testing Program 1.LMNA, ZMPSTE24, ANK3, PYCR1, SPRTN, SIRT6, ROBO3, ERCC4, WRN, XPA, ATM, H2AX, NAT10, BANF1, TP53, SUN1, GGT1, GH1, LMNB1, ICMT, ING1, FOXM1, PLA2G1B, YWHAZ, SOX2, MTOR, GGTLC4P, PLB1, ERCC2, GGT2, GGTLC3, BUB1B, LMNB2, GGTLC5P, AMPD1, SMURF2, GOLGA6A, GTF2H5, FGF23, POU5F1P3, XPO1, VDR, POU5F1P4, KLF4, TPR, TP53BP1, TIMP1, SREBF1, SQSTM1, ADIPOQ, KL, HTRA2, EHMT1, CTC1, RCBTB1, SRSF5, SOST, SETD2, MGME1, GGCT, SIRT1, TWIST2, PLA2R1, HFM1, LEMD2, EDIL3, SRSF6, A2M, SRSF1, CD55, GLB1, GJA1, GFAP, GABPA, FDPS, ERCC6, ERCC1, ELN, NQO1, DES, CTNNB1, ROS1, CRP, CDKN2A, CDH5, BTF3P11, BRCA1, BGLAP, APRT, ALPL, AKT1, ACAN, SFN, HDAC2, HIP1, HMOX1, RARB, RAN, RAD51, ALDH18A1, ACTB, PRKAB1, PRKAA2, PRKAA1, PRELP, POU5F1, PLG, PECAM1, TNFRSF11B, NFE2L2, GADD45B, MFAP1, MDM2, MXD1, TNPO1, KCNMA1, IGF1, PRPS1
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Citrullinemia, Classic
OMIM
The mutations gly390 to arg (G390R; 603470.0009), IVS13+5G-A (603470.0017), and arg108 to leu (R108L; 603470.0014) were associated with classic citrullinemia, whereas the mutations trp179 to arg (W179R; 603470.0015) and gly362 to val (G362V; 603470.0016) were detected on alleles of mildly affected patients.
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Wind Turbine Syndrome
Wikipedia
Kennedy (1968) Juscelino Kubitschek (1976) Pope John Paul I (1978) Airey Neave (1979) Francisco de Sá Carneiro and Adelino Amaro da Costa (1980) Olof Palme (1986) Zia-ul-Haq (1988) Vince Foster (1993) Yitzhak Rabin (1995) Diana, Princess of Wales (1997) Nepalese royal family (2001) Jeffrey Epstein (2019) Chan Yin-lam (2019) False flag attacks USS Maine (1898) RMS Lusitania (1915) Reichstag fire (1933) Pearl Harbor (1941) USS Liberty (1967) Widerøe Flight 933 (1982) KAL Flight 007 (1983) Mozambican presidential jet (1986) Pan Am Flight 103 (1988) Oklahoma City bombing (1995) 9/11 attacks (2001) Advance knowledge WTC collapse Madrid train bombing (2004) London bombings (2005) Malaysia Airlines Flight 17 (2014) Various deaths and disappearances RMS Titanic (1912) Phar Lap (1932) Gas chambers for Poles in Warsaw (1940s) Mass murder of German POWs after World War II (1940s) Adolf Hitler's death (1945) Yemenite Children (1948–54) Cairo Fire (1952) Dyatlov Pass incident (1959) Lost Cosmonauts (1950s / 1960s) Elvis Presley's death (1977) Jonestown (1978) Satanic ritual abuse MS Estonia (1994) Kurt Cobain (1994) Hello Garci scandal Osama bin Laden (2011) Lahad Datu, Malaysia standoff (2013) Zamboanga City crisis (2013) Malaysia Airlines Flight 370 (2014) New World Order Black helicopters Cultural Marxists theories Denver International Airport Eurabia Georgia Guidestones Illuminati Judeo-Masonic plot Jews The Protocols of the Elders of Zion Kalergi Plan Freemasons North American Union Catholics Jesuits Vatican ODESSA Rothschild family Skull and Bones The Fellowship Zionist Occupation Government By region Conspiracy theories in the Arab world Israeli animal theories Conspiracy theories in Turkey UFOs Alien abduction Area 51 Bermuda Triangle Black Knight satellite Cryptoterrestrial hypothesis Extraterrestrial hypothesis Interdimensional hypothesis Dulce Base Estimate of the Situation (1948) Majestic 12 Men in black Nazi UFOs Project Serpo Reptilian humanoids Incidents Tunguska (1908) Foo Fighters (1940s) Los Angeles (1942) Ghost Rockets (1946) Maury Island (1947) Roswell (1947) Gorman Dogfight (1948) Mantell (1948) McMinnville (1950) Lubbock (1951) Washington, D.C. (1952) Barney and Betty Hill Abduction (1961) Kecksburg (1965) Westall (1966) Jimmy Carter (1969) Frederick Valentich (1978) Rendlesham Forest (1980) Cash-Landrum (1980) Japan Air Lines (1986) Varginha (1996) Phoenix Lights (1997) USS Nimitz (2004) Chicago (2006) United States government 1951 Pont-Saint-Esprit mass poisoning Apollo Moon landings Barack Obama's citizenship / religion / parentage Belgrade Chinese embassy bombing (1999) Black genocide Business Plot Clinton Body Count CIA-Kennedy assassination link Allegations of CIA assistance to Osama bin Laden Dulles' Plan FEMA concentration camps HAARP Jade Helm 15 (2015) Montauk Project October Surprise (1980) Pizzagate (2016) Philadelphia Experiment (1943) Project Azorian (1974) QAnon Sandy Hook shooting (2012) Seth Rich (2016) Sovereign citizen / Redemption movement Stop the Steal (2020) Spygate (2016,18) Vast right-wing conspiracy Vietnam War POW / MIA issue TWA Flight 800 (1996) Health Big Pharma conspiracy theory HIV/AIDS denialism Discredited HIV/AIDS origins theories OPV AIDS hypothesis SARS (2003) COVID-19 pandemic Anti-vaccination Vaccines and autism MMR vaccine and autism Chemtrail conspiracy theory Water fluoridation controversy GMO conspiracy theories Wind turbine syndrome Electronic harassment Energy, environment Free energy suppression conspiracy theory Global warming conspiracy theory Other 2012 phenomenon Agenda 21 (1992) Andinia Plan Black genocide Cancellation of the Avro Arrow (1959) Bible Clockwork Orange (1970s) Conspiracy Encyclopedia "Death" of Paul McCartney (1969) Judeo-Bolshevism Judeopolonia Homintern Homosexual recruitment Kalergi Plan Knights Templar Lilla Saltsjöbadsavtalet (1987) Love Jihad Mexican Reconquista New Coke (1985) Phantom time / New Chronology Red mercury Soft coup George Soros War against Islam White genocide See also Denial of mass killings (list) Genocide denial v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.
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