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Transcription:

OMIM standard name of condition (please provide the conditions that the test is for which may NOT necssarily be the condition that is linked to the gene on OMIM) OMIM symbol of condition OMIM Mode number of of condition inheritance HGNC standard name of gene HGNC symbol of the gene Adenylosuccinase deficiency. not listed 103050 AR adenylosuccinate lyase ADSL Epilepsy, pyridoxine dependent EPD 266100 AR aldehyde dehydrogenase 7 family member A1 ALDH7A1 Glycine encephalopathy, GCE 605899 AR aminomethyltransferase AMT Periventricular heterotopia with microcephaly ARPHM 608097 AR ADP ribosylation factor guanine nucleotide exchange factor 2 ARFGEF2 Epileptic encephalopathy, early infantile, 8, EIEE8 300607 XLR Cdc42 guanine nucleotide exchange factor 9 ARHGEF9 Epileptic encephalopathy, early infantile, 1, EIEE1 308350 XLR Lissencephaly, X linked 2, LISX2 300215 X-linked Mental retardation, X linked 29 and others, MRXARX 300419 X-linked Proud syndrome, 300004 X-linked Partington syndrome, PRTS 309510 XLR Hydranencephaly with abnormal genitalia, LISX2 300215 X-linked Migraine, familial hemiplegic, 2, FHM2 602481 AD Alternating hemiplegia of childhood AHC1 104290 AD Migraine, familial basilar FHM2 602481 AD Mental retardation, X linked, with epilepsy MRXSH 300423 XLR ATPase, H+ transporting, lysosomal accessory protein 2 ATP6AP2 Migraine, familial hemiplegic, 1, FHM1 141500 AD aristaless related homeobox ATPase, Na+/K+ transporting, alpha 2 polypeptide ARX ATP1A2 Episodic ataxia, type 2, EA2 108500 AD Spinocerebellar ataxia 6, SCA6 183086 AD Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, FHM1 141500 AD calcium channel, voltage-dependent, P/Q type, alpha 1A subunit CACNA1A Epilepsy, idiopathic generalized, susceptibility t EIG9 607682 AD alcium channel, voltage-dependent, beta 4 subunit CACNB4 Epileptic encephalopathy, early infantile, 2, EIEE2 300672 XLD cyclin dependent kinase like 5 CDKL5 Epileptic encephalopathy, childhood-onset EEOC 615369 AD chromodomain helicase DNA binding protein 2 CHD2 Epilepsy, nocturnal frontal lobe, type 4 ENFL4 610353 AD cholinergic receptor, nicotinic alpha 2 CHRNA2 Epilepsy, nocturnal frontal lobe, 1 ENFL1 600513 AD cholinergic receptor, nicotinic alpha 4 CHRNA4

Epilepsy, nocturnal frontal lobe, 3 ENFL3 605375 AD cholinergic receptor, nicotinic beta 2 CHRNB2 Ceroid lipofuscinosis, neuronal, 3, CLN3 204200 AR ceroid-lipofuscinosis, neuronal 3 CLN3 Ceroid lipofuscinosis, neuronal, 5, CLN5 256731 AR ceroid-lipofuscinosis, neuronal 5 CLN5 Ceroid lipofuscinosis, neuronal, 6, CLN6 601780 AR Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, CLN4A 204300 AR Ceroid lipofuscinosis, neuronal, 8, CLN8 600143 AR Ceroid lipofuscinosis, neuronal, 8, rthern epilepsy variant, not listed 610003 AR Cortical dysplasia focal epilepsy syndrome, CDFES 610042 AR Pitt Hopkins like syndrome 1 CDFES 610042 AR Epilepsy, familial temporal lobe, 5, ETL5 614417 AD Febrile seizures, familial, 11, Feb-11 614418 AR ceroid-lipofuscinosis, neuronal 6, late infantile, variant ceroid-lipofuscinosis, neuronal 8 contactin associated protein-like 2 carboxypeptidase A6 CLN6 CLN8 CNTNAP2 CPA6 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), not listed 254800 AR cystatin B CSTB Ceroid lipofuscinosis, neuronal, 10, CLN10 610127 AR cathepsin D CTSD Ceroid lipofuscinosis, neuronal, 13, Kufs type, CLN13 615362 AR cathepsin F CTSF Mental retardation, X linked, syndromic 15 (Cabezas type) MRXSC 300354 XLR cullin 4B CUL4B Lissencephaly, X linked, LISX1 300067 X-linked doublecortin DCX Mental retardation, autosomal dominant 7, MRD7 614104 AD {Epilepsy, juvenile absence, susceptibility to, 1} EJA1 607631 AD {Myoclonic epilepsy, juvenile, susceptibility to, 1} EJM 254770 AD Epilepsy, progressive myoclonic 2A (Lafora), not listed 254780 AR Cardiac valvular dysplasia, X-linked CVD1 314400 XLR Congenital short bowel syndrome not listed 300048 XLR FG syndrome 2 FGS2 300321 XLR Frontometaphyseal dysplasia FMD 305620 XLR Heterotopia, periventricular PVNH1 300049 XLR Intestinal pseudoobstruction, neuronal not listed 300048 XLR Melnick-Needles syndrome MNS 309350 XLR Otopalatodigital syndrome, type I OPD1 311300 XLR Otopalatodigital syndrome, type II OPD2 304120 XLR dual specificity tyrosine-(y)-phosphorylation regulated kinase 1A EF-hand domain (C-terminal) containing 1 epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) filamin A DYRK1A EFHC1 EPM2A FLNA

Terminal osseous dysplasia TOD 300244 XLR Neurodegeneration due to cerebral folate transport deficiency, not listed 613068 AR folate receptor 1 (adult) FOLR1 Rett syndrome, congenital variant not listed 613454 AD forkhead box G1 FOXG1 Epileptic encephalopathy, early infantile, 19 EIEE19 615744 AD Epilepsy, childhood absence, susceptibility to, 4 EIG13 611136 AD Epilepsy, generalized, with febrile seizures plus, type 3 GEFSP3 611277 AD {Epilepsy, childhood absence, susceptibility to, 2} ECA2 607681 AD gamma-aminobutyric acid (GABA) A receptor, alpha 1 gamma-aminobutyric acid (GABA) A receptor, gamma 2 GABRA1 GABRG2 Cerebral creatine deficiency syndrome 2 CCDS2 612736 AR guanidinoacetate N-methyltransferase GAMT Glycine encephalopathy GCE 605899 AR glycine cleavage system protein H (aminomethyl carrier) GCSH Glycine encephalopathy GCE 605899 AR glycine dehydrogenase (decarboxylating) GLDC Hyperekplexia, hereditary 1, autosomal dominant or recessive HKPX1 149400 AD / AR glycine receptor alpha 1 GLRA1 Hyperekplexia 2, autosomal recessive HKPX2 614619 AR glycine receptor beta GLRB Hyperinsulinism-hyperammonemia syndrome HHF6 606762 AD glutamate dehydrogenase 1 GLUD1 Polymicrogyria, bilateral frontoparietal BFPP 606854 AR Polymicrogyria, bilateral perisylvian BPPR 615752 AR Febrile seizures, familial, 4 FEB4 604352 AD Usher syndrome, type 2C USH2C 605472 AR / digenic adhesion G protein-coupled receptor G1 adhesion G protein-coupled receptor V1 ADGRG1 ADGRV1 Epilepsy with neurodevelopmental defects, FESD 245570 AD glutamate receptor, ionotropic, N-methyl D-aspartate 2A GRIN2A Epileptic encephalopathy, early infantile, 27 EIEE27 616139 AD glutamate receptor, ionotropic, N-methyl D-aspartate 2B GRIN2B Episodic ataxia/myokymia syndrome EA1 160120 AD potassium channel, voltage gated shaker related subfamily A, member 1 Enlarged vestibular aqueduct, digenic DFNB4 600791 AR SESAME syndrome SESAMES 612780 AR Generalized epilepsy and paroxysmal dyskinesia GEPD 609446 AD Epileptic encephalopathy, early infantile, 7 EIEE7 613720 AD Seizures, benign neonatal, type 2 BFNS2 121201 AD Epilespsy, nocturnal forntal lobe, 5 ENFL5 615005 AD potassium channel, inwardly rectifying subfamily J, member 10 potassium channel, calcium activated large conductance subfamily M alpha, member 1 potassium channel, voltage gated KQT-like subfamily Q, member 2 potassium channel, voltage gated KQT-like subfamily Q, member 3 potassium channel, sodium activated subfamily T, member 1 KCNA1 KCNJ10 KCNMA1 KCNQ2 KCNQ3 KCNT1

Epilepsy, progressive myoclonic 3, with or without intracellular inclusions EPM3 611726 AR potassium channel tetramerization domain containing 7 KCTD7 Epilepsy, familial temporal lobe, 1 ETL1 600512 AD leucine-rich, glioma inactivated 1 LGI1 Mental retardation, autosomal dominant 1 MRD1 156200 AD methyl-cpg binding domain protein 5 MBD5 Microcephaly 1, primary, autosomal recessive MCPH1 251200 AR microcephalin 1 MCPH1 Encephalopathy, neonatal severe Mental retardation, X-linked syndromic, Lubs type MRXSL 300260 XLR Mental retardation, X-linked, syndromic 13 MRXS13 300055 XLR Rett syndrome RTT 312750 XLR Rett syndrome, preserved speech variant RTT 312750 XLR {Autism susceptibility, X-linked 3} AUTSX3 300496 XLR Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations MRD20 613443 AD myocyte enhancer factor 2C MEF2C Ceroid lipofuscinosis, neuronal, 7 CLN7 610951 AR major facilitator superfamily domain containing 8 MFSD8 Molybdenum cofactor deficiency A MOCODA 252150 AR molybdenum cofactor synthesis 1 MOCS1 Molybdenum cofactor deficiency B MOCODB 252160 AR molybdenum cofactor synthesis 2 MOCS2 Epilepsy, progressive myoclonic 2B (Lafora) not listed 254780 AR NHL repeat containing E3 ubiquitin protein ligase 1 NHLRC1 Pitt-Hopkins-like syndrome 2 PTHSL2 614325 AR neurexin 1 NRXN1 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Lissencephaly 1 LIS1 607432 AD not listed 300486 XLR oligophrenin 1 OPHN1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 PAFAH1B1 Epileptic encephalopathy, early infantile, 9 EIEE9 300088 X-linked protocadherin 19 PCDH19 Microcephalic osteodysplastic primordial dwarfism, type II MOPD2 210720 AR pericentrin PCNT Borjeson-Forssman-Lehmann syndrome BFLS 301900 XLR PHD finger protein 6 PHF6 Epileptic encephalopathy, early infantile, 12 EIEE12 613722 AR phospholipase C beta 1 PLCB1 Microcephaly, seizures, and developmental delay Pyridoxamine 5'-phosphate oxidase deficiency not listed 610090 AR pyridoxamine 5'-phosphate oxidase PNPO Mitochondrial DNA depletion syndrome 4A (Alpers type) MTDPS4A 203700 AR Mitochondrial DNA depletion syndrome 4B (MNGIE type) MTDPS4B 613662 AR Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) notlisted MCSZ 300673 613402 SANDO 607459 AR Progressive external ophthalmoplegia, autosomal dominant PEOA1 157640 AD XLR AR methyl-cpg binding protein 2 polynucleotide kinase 3'-phosphatase polymerase (DNA directed), gamma MECP2 PNKP POLG

Progressive external ophthalmoplegia, autosomal recessive PEOB1 258450 AR Ceroid lipofuscinosis, neuronal, 1 CLN1 256730 AR palmitoyl-protein thioesterase 1 PPT1 Epilepsy, progressive myoclonic 1B EPM1B 612437 AR prickle planar cell polarity protein 1 PRICKLE1 Seizures, benign familial infantil BFIS2 605751 AD proline-rich transmembrane protein 2 PRRT2 Basal cell carcinoma, somatic BCC1 605462 somatic Basal cell nevus syndrome BCNS 109400 AD patched 1 PTCH1 Holoprosencephaly-7 HPE7 610828 AD Lissencephaly 2 (rman-roberts type) LIS2 257320 AR reelin RELN Epilepsy, progressive myoclonic 4, with or without renal failure EPM4 254900 AR scavenger receptor class B member 2 SCARB2 Dravet syndrome EIEE6 607208 AD Epilepsy, generalized, with febrile seizures plus, type 2 GEFSP2 604403 AD Febrile seizures, familial, 3A GEFSP2 AD Migraine, familial hemiplegic, 3 FHM3 609634 AD Atrial fibrillation, familial, 13 ATFB13 615377 AD Brugada syndrome 5 BRGDA5 612838 AD Cardiac conduction defect, nonspecific BRGDA5 AD Epilepsy, generalized, with febrile seizures plus, type 1 GEFSP1 604233 AD Epileptic encephalopathy, early infantile, 11 EIEE11 613721 AD Seizures, benign familial infantile, 3 BFIS3 607745 AD sodium channel, voltage gated, type I alpha subunit sodium channel, voltage gated, type I beta subunit sodium channel, voltage gated, type II alpha subunit SCN1A SCN1B SCN2A Focal epilepsy not listed t listed AD sodium channel, voltage gated, type III alpha subunit SCN3A Cognitive impairment with or without cerebellar ataxia CIAT 614306 AD Epileptic encephalopathy, early infantile, 13 EIEE13 614558 AD Epilepsy, generalized, with febrile seizures plus, type 7 GEFSP7 613863 AD Erythermalgia, primary not listed 133020 AD Febrile seizures, familial, 3B GEFSP7 613863 AD Insensitivity to pain, congenital CIP 243000 AR Paroxysmal extreme pain disorder, not listed 167400 AD Small fiber neuropathy not listed 133020 AD Holoprosencephaly-3 HPE3 142945 AD Microphthalmia with coloboma 5 MCOPCB5 611638 AD sodium channel, voltage gated, type VIII alpha subunit sodium channel, voltage gated, type IX alpha subunit sonic hedgehog SCN8A SCN9A SHH

Schizencephaly not listed 269160 AD Single median maxillary central incisor SMMCI 147250 AD Holoprosencephaly-2 HPE2 157170 AD, IC Schizencephaly not listed 269160 AD Microcephaly, Amish type MCPHA 607196 AR Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) THMD4 613710 AR solute carrier family 25 (mitochondrial carrier: glutamate), Epileptic encephalopathy, early infantile, 3 EIEE3 609304 AR SLC25A22 member 22 GLUT1 deficiency syndrome 2 GLUT1DS2 612126 AD Hyperekplexia 3 HKPX3 614618 AD / AR Mental retardation, X-linked syndromic, Christianson type MRXSCH 300243 XLD solute carrier family 2 (facilitated glucose transporter), member 1 solute carrier family 6 (neurotransmitter transporter), member 5 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 Epileptic encephalopathy, early infantile, 5 EIEE5 613477 AD spectrin alpha, non-erythrocytic 1 SPTAN1 Infantile epileptic encephalopathy not listed t listed AD SLIT-ROBO Rho GTPase activating protein 2 SRGAP2 Amish infantile epilepsy syndrome not listed 609056 AR ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ST3GAL5 Microcephaly 7, primary, autosomal recessive MCPH7 612703 AR SCL/TAL1 interrupting locus STIL Epileptic encephalopathy, early infantile, 4 EIEE4 612164 AD syntaxin binding protein 1 STXBP1 Sulfite oxidase deficiency not listed 272300 AR sulfite oxidase SUOX Epilepsy, X-linked, with variable learning disabilities and behavior disorders SLC2A1 SLC6A5 SLC9A6 not listed 300491 XLD / XLR synapsin I SYN1 Mental retardation, autosomal dominant 5 MRD5 612621 AD synaptic Ras GTPase activating protein 1 SYNGAP1 Deafness, autosomal recessive 86 DFNB86 614617 AR Deafness, autosomal dominant 65 DFNA65 616044 AD DOOR syndrome DOORS 220500 AR Epileptic encephalopathy, early infantile, 16 EIEE16 615338 AR Myoclonic epilepsy, infantile, familial FIME 605021 AR Pitt-Hopkins syndrome PTHS 610954 AD transcription factor 4 TCF4 Holoprosencephaly-4 HPE4 142946 AD TGFB-induced factor homeobox 1 TGIF1 Ceroid lipofuscinosis, neuronal, 2 CLN2 204500 AR Spinocerebellar ataxia, autosomal recessive 7 SCAR7 609270 AR Focal cortical dysplasia, Taylor balloon cell type FCDT 607341 IC sonic hedgehog SIX homeobox 3 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 TBC1 domain family member 24 tripeptidyl peptidase I SHH SIX3 SLC25A19 TBC1D24 TPP1

Lymphangioleiomyomatosis LAM 606690 sporadic Tuberous sclerosis-1 TSC1 191100 AD Lymphangioleiomyomatosis, somatic LAM 606690 sporadic Tuberous sclerosis-2 TSC2 613254 AD Pontocerebellar hypoplasia type 2B PCH2B 612389 AR trna splicing endonuclease subunit 2 TSEN2 Pontocerebellar hypoplasia type 2C PCH2C 612390 AR trna splicing endonuclease subunit 34 TSEN34 Pontocerebellar hypoplasia type 2A PCH2A 277470 AR Pontocerebellar hypoplasia type 4 PCH4 225753 AR Angelman syndrome AS 105830 IC ubiquitin protein ligase E3A UBE3A Microcephaly 2, primary, autosomal recessive, with or without cortical malformations tuberous sclerosis 1 tuberous sclerosis 2 trna splicing endonuclease subunit 54 MCPH2 604317 AR WD repeat domain 62 WDR62 Mowat-Wilson syndrome MOWS 235730 AD zinc finger E-box binding homeobox 2 ZEB2 TSC1 TSC2 TSEN54 Holoprosencephaly-5 HPE5 609637 AD Zic family member 2 ZIC2

HGNC OMIM number of number of the gene the gene Evidence of association between gene and condition % of horizontal coverage of the gene at 10x % of horizontal coverage of the gene at 30x MLPA 291 608222 PubMed: 12016589 94.1 ± 0.0 92.6 ± 2.3 877 107323 PubMed: 16491085 99 ± 0.3 97.0 ± 0.6 473 238310 PubMed: 8005589 100.0 ± 0.0 96.3 ± 5.0 15853 605371 PubMed: 14647276 99.4 ± 0.2 97.0 ± 1.5 14561 300429 PubMed: 15215304 99.8 ± 0.5 93.5 ± 6.8 PubMed: 19606478 PubMed: 12379852 PubMed: 11971879 18060 300382 25.2 ± 1.2 16.5 ± 4.3 800 182340 PubMed: 1605226 PubMed: 3177452 PubMed: 17668384 PubMed: 18779512 PubMed: 14667076 PubMed: 18779512 99.6 ± 0.4 92.4 ± 2.6 18305 300556 PubMed: 20629132 89.0 ± 0.9 80.2 ± 10.3 PubMed: 15003170 PubMed: 8898206 1388 601011 PubMed: 8988170 78.2 ± 0.7 71.7 ± 2.2 PubMed: 15003170 1404 601949 PubMed: 10762541 97.2 ± 1.8 93.0 ± 1.8 11411 300203 PubMed: 15492925 100.0 ± 0.0 95.8 ± 5.4 1917 602119 PubMed: 23020937 100.0 ± 0.1 98.5 ± 0.6 1956 118502 PubMed: 16826524 98.3 ± 1.4 91.7 ± 1.1 1958 118504 PubMed: 7647781 74.7 ± 2.5 62.8 ± 4.3

1962 118507 PubMed: 11062464 75.5 ± 1.3 68.1 ± 4.1 2074 607042 PubMed: 7553855 96.6 ± 0.5 90.2 ± 2.8 2076 608102 PubMed: 9662406 73.9 ± 0.0 73.6 ± 0.7 PubMed: 11791207 2077 606725 76.5 ± 0.4 69.2 ± 1.8 PubMed: 21549341 PubMed: 19431184 2079 607837 98.2 ± 1.3 92.3 ± 3.0 PubMed: 10508524 PubMed: 16571880 13830 604569 99.2 ± 0.1 95.7 ± 1.9 PubMed: 19896112 PubMed: 21922598 17245 609562 100.0 ± 0.0 99.7 ± 0.4 PubMed: 21922598 2482 601145 PubMed: 8938434 75.9 ± 0.0 75.0 ± 1.8 2529 116840 PubMed: 16685649 83.7 ± 1.1 68.7 ± 6.2 2531 603539 PubMed: 23297359 85.6 ± 0.5 74.1 ± 8.1 2555 300304 PubMed: 17236139 99.9 ± 0.2 94.3 ± 7.8 2714 300121 PubMed: 9132485 100.0 ± 0.0 96.3 ± 3.6 3091 600855 PubMed: 21294719 100.0 ± 0.0 100.0 ± 0.0 16406 608815 PubMed: 8737649 96.0 ± 0.0 94.5 ± 1.1 3413 607566 PubMed: 11175283 74.5 ± 0.0 74.5 ± 0.0 PubMed: 17190868 PubMed:23037936 PubMed: 17632775 PubMed: 12612583 PubMed: 8290091 3754 300017 93.9 ± 3.3 73.8 ± 18.9 PubMed: 23037936 PubMed: 12612583 PubMed: 12612583 PubMed: 12612583

PubMed: 20583181 3791 136430 PubMed: 19732866 100.0 ± 0.0 98.7 ± 2.7 3811 164874 PubMed: 18571142 65.9 ± 3.4 50.5 ± 3.6 PubMed: 11992121 4075 137160 98.6 ± 0.0 98.4 ± 0.2 PubMed: 21714819 PubMed: 11326274 4087 137164 88.6 ± 0.0 88.2 ± 0.5 PubMed: 11326275 4136 601240 PubMed: 8651275 70.5 ± 4.6 52.1 ± 5.9 4208 238330 PubMed: 1671321 72.9 ± 0.0 72.8 ± 0.4 4313 238300 PubMed: 1634607 95.2 ± 0.3 92.6 ± 1.3 4326 138491 PubMed: 1334371 100.0 ± 0.0 98.9 ± 0.8 4329 138492 PubMed: 11929858 97.7 ± 0.0 97.5 ± 0.4 4335 138130 PubMed: 9571255 86.2 ± 0.7 83.0 ± 0.8 PubMed: 15044805 4512 604110 99.4 ± 0.8 89.4 ± 4.7 PubMed: 24531968 PubMed: 12402266 17416 602851 99.8 ± 0.2 97.5 ± 1.1 PubMed: 14740321 4585 138253 PubMed: 20890276 97.7 ± 0.6 95.5 ± 0.6 4586 138252 PubMed: 20890276 99.4 ± 0.8 89.3 ± 2.5 6218 176260 PubMed: 7842011 93.7 ± 0.9 86.5 ± 4.8 PubMed: 19426954 6256 602208 100.0 ± 0.0 93.1 ± 5.3 PubMed: 19289823 6284 600150 PubMed: 15937479 96.2 ± 0.3 93.8 ± 0.9 6296 602235 PubMed: 9425895 74.6 ± 2.5 62.9 ± 3.7 6297 602232 PubMed: 1859177 89.4 ± 0.4 86.0 ± 1.5 18865 608167 PubMed: 23086396 74.6 ± 1.8 60.5 ± 4.0

21957 611725 PubMed: 17455289 89.0 ± 1.0 87.7 ± 0.9 6572 604619 PubMed: 11810107 100.0 ± 0.0 94.4 ± 2.7 20444 611472 PubMed: 17847001 100.0 ± 0.1 97.3 ± 2.1 6954 607117 PubMed: 12046007 98.9 ± 0.4 94.3 ± 2.0 PubMed: 11807877 PubMed: 10986043 6990 300005 PubMed: 9377804 PubMed: 10508514, 88.5 ± 5.4 68.8 ± 15.9 PubMed: 12107440 PubMed: 23352163 6996 600662 PubMed: 19592390 99.9 ± 0.3 96.7 ± 1.5 28486 611124 PubMed: 18850119 100.0 ± 0.0 100.0 ± 0.0 7190 603707 PubMed: 9634514 93.8 ± 0.3 80.8 ± 6.4 7193 603708 PubMed: 10053004 95.6 ± 1.0 93.3 ± 0.1 21576 608072 PubMed: 12958597 67.1 ± 1.7 58.8 ± 2.4 8008 600565 PubMed: 19896112 86.2 ± 0.5 83.1 ± 1.4 8148 300127 PubMed: 9582072 100.0 ± 0.0 97.2 ± 4.3 8574 601545 PubMed: 9063734 100.0 ± 0.0 92.1 ± 4.9 14270 300460 PubMed: 5116697 95.1 ± 1.1 80.0 ± 13.1 16068 605925 PubMed: 18157127 89.9 ± 1.2 79.7 ± 3.1 18145 300414 PubMed: 12415272 99.5 ± 1.1 87.8 ± 13.5 15917 607120 PubMed: 20833646 100.0 ± 0.0 99.9 ± 0.2 9154 605610 PubMed: 20118933 83.3 ± 2.1 69.1 ± 6.8 30260 603287 PubMed: 15772097 79.7 ± 4.2 73.8 ± 3.6 PubMed: 16177225 PubMed: 12565911 9179 174763 PubMed: 12565911 85.5 ± 1.1 75.6 ± 1.8 PubMed: 11431686

PubMed: 12565911 9325 600722 PubMed: 7637805 96.4 ± 0.7 94.2 ± 0.6 17019 608500 PubMed: 18976727 99.4 ± 0.6 96.3 ± 1.1 30500 614386 PubMed: 22101681 99.6 ± 0.6 81.2 ± 6.9 9585 601309 PubMed: 8782823 PubMed: 8658145 PubMed: 11941477 9957 600514 PubMed: 10973257 99.6 ± 0.1 98.3 ± 0.7 1665 602257 PubMed: 18308289 96.1 ± 0.2 94.9 ± 0.8 PubMed: 11359211 94.9 ± 1.1 85.2 ± 4.1 PubMed: 10486327 10585 182389 100.0 ± 0.0 99.5 ± 0.4 PubMed: 19289736 PubMed: 19332696 PubMed: 19808477 PubMed: 18464934 10586 600235 94.4 ± 0.5 81.4 ± 5.0 PubMed: 19808477 PubMed: 9697698 PubMed: 15028761 10588 182390 100.0 ± 0.0 98.6 ± 0.6 PubMed: 11371648 10590 182391 PubMed: 11122339 100.0 ± 0.1 97.8 ± 1.6 PubMed: 16236810 10596 600702 98.8 ± 0.2 97.1 ± 0.9 PubMed: 22365152 PubMed: 19763161 PubMed: 14985375 PubMed: 19763161 10597 603415 99.9 ± 0.2 97.8 ± 0.9 PubMed: 17167479 PubMed: 14985375 PubMed: 22826602 PubMed: 8896572 PubMed: 12503095 10848 600725 56 5 ± 1 6 49 2 ± 3 2

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12362 12363 605284 191092 PubMed: 11829138 PubMed: 10227394 PubMed: 10823953 99.3 ± 0.8 94.4 ± 1.2 93.2 ± 2.5 79.2 ± 6.4 PubMed: 7581393 28422 612389 PubMed: 18711368 87.7 ± 0.0 87.3 ± 0.8 15506 608754 PubMed: 18711368 74.1 ± 1.7 57.0 ± 7.8 27561 608755 PubMed: 17641900 PubMed: 18711368 56.9 ± 3.0 40.5 ± 8.2 12496 601623 PubMed: 8988171 100.0 ± 0.0 99.9 ± 0.2 24502 613583 PubMed: 20729831 95.4 ± 1.1 86.1 ± 4.3 14881 605802 PubMed: 11279515, 99.0 ± 0.8 90.0 ± 2.5 12873 603073 PubMed: 9771712 49.0 ± 1.6 43.0 ± 1.7