Related by context. All words. (Click for frequent words.) 62 PTPN# 62 monogenic 62 missense mutations 61 germline mutations 61 autosomal recessive 61 homozygosity 61 selfing 61 karyotypes 60 mutant allele 60 isoenzymes 60 mtDNA mutations 60 ataxias 60 autosomal dominant disorder 60 S. Typhimurium 60 autosomal dominant 60 quantitative trait loci 60 C. neoformans 60 N. gonorrhoeae 60 chromosome #q#.# [001] 59 chromosomal rearrangement 59 genetic loci 59 Mendelian 59 autosomal 59 de novo mutations 59 TP# gene 59 maternally inherited 59 nongenetic 59 penetrance 59 phenotypic expression 59 trypanosome 59 allelic variants 59 transcriptional repressor 59 germline mutation 58 thymocyte 58 sCJD 58 CHD7 58 recessive inheritance 58 heterozygotes 58 protein tyrosine phosphatase 58 MTHFR gene 58 gambiae 58 recessive trait 58 epistasis 58 transgene expression 58 R#W [002] 58 homozygote 57 MYH9 gene 57 prion protein gene 57 phenotype 57 paralogs 57 MLL gene 57 modifier genes 57 lymphoid cells 57 IRAK1 57 chromosome #q#.# [002] 57 heterozygote 57 apolipoprotein E gene 57 epistatic 57 heterozygous 57 PON1 57 sequence homology 57 prion strains 57 IgA deficiency 57 D. melanogaster 57 #S rRNA 57 GPx 57 allelic 57 outcrossing 57 Bacteroides 57 JAK2 mutation 57 MECP2 gene 57 H#K#me# 57 CYP#C# gene 57 chromosome #q# [002] 57 alternatively spliced 57 coexpression 57 P cadherin 57 orthologs 57 allelic variation 57 autoantigen 57 Prox1 57 ApoE gene 57 substrate specificity 56 serum antibodies 56 paraneoplastic 56 WNK1 56 #p#.# [001] 56 spontaneous mutation 56 histocompatibility 56 OCA2 56 genes predisposing 56 tyrosine phosphorylation 56 indel 56 striatal neurons 56 renal tubular 56 recessive genetic 56 multigenic 56 synthases 56 intestinal microflora 56 C. jejuni 56 ploidy 56 #q#.# [001] 56 Genetic variation 56 mosaicism 56 allele frequencies 56 ERK signaling 56 inbred strains 56 KLF4 56 chromosome #p#.# 56 HLA genes 56 mRNA transcripts 56 neoplasias 56 A. thaliana 56 herpesviruses 56 epigenetic alterations 56 PTEN mutations 56 M. pneumoniae 56 gene locus 56 genetic heterogeneity 56 chromosomal regions 56 genetic polymorphism 56 beta globin 56 #q#.# [002] 56 frameshift mutation 56 microdeletion 56 CDH1 56 huntingtin gene 56 rRNA 56 CYP#B# 56 X inactivation 55 G#S [002] 55 ß1 55 hereditary hemochromatosis 55 CYP#D# gene 55 phenotypic variation 55 MC1R gene 55 fungal genomes 55 chromosome #q 55 differential gene expression 55 ventricular myocardium 55 amine oxidase 55 polymicrobial infections 55 bacterial genomes 55 ciliated 55 amyloid peptide 55 heritable traits 55 homodimers 55 Li Fraumeni syndrome 55 metaplasia 55 susceptibility gene 55 spontaneous mutations 55 GFP fluorescence 55 sporadic ALS 55 APOE e4 55 PrPC 55 Helicobacter 55 flavivirus 55 Leptospira 55 F. graminearum 55 SMAD4 55 Notch signaling 55 chromosome #q# [001] 55 p# mutations 55 gene deletions 55 microsatellite markers 55 HLA DRB1 * 55 clade B 55 etiologic 55 EBV infection 55 inherited neurological disorder 55 APOE ε4 55 outer membrane proteins 55 H#Y 55 causative genes 55 aneuploidies 55 PTEN gene 55 methylation patterns 55 miRNA expression 55 dominantly inherited 55 ZNF# 55 functional polymorphism 54 posttranslational modifications 54 ABCB1 gene 54 leukocyte recruitment 54 dermatophytes 54 cytochrome b 54 LRAT 54 immunodeficiencies 54 Epstein Barr virus EBV 54 ADPKD 54 sexual dimorphism 54 genotypic 54 behavioral disinhibition 54 alpha synuclein gene 54 karyotype 54 COOH terminal 54 polyploid 54 polygenic 54 Th2 54 phenotypes 54 autosomal recessive disease 54 cybrid 54 gene MECP2 54 FTLD 54 monozygotic 54 NR#A# 54 proinflammatory cytokine 54 hydroxylase 54 etiologic agent 54 virulence genes 54 #p# [003] 54 ligand receptor 54 epigenetic modifications 54 herpes viruses 54 methyltransferase 54 GSTT1 54 infectious prion proteins 54 steroidogenic 54 phylogenetically 54 genomic imprinting 54 chromosome #p# [001] 54 melanocyte 54 receptor gene 54 diffusible 54 susceptibility alleles 54 globin gene 54 phenotypic characteristics 54 C1q 54 α KG 54 proband 54 fig. S2 54 mitochondrial gene 54 constitutively expressed 54 transcriptional coactivator 54 phenotypic differences 54 metazoan 54 microdeletions 54 lactis 54 MeCP2 gene 54 isotypes 54 Fig. 1D 54 cellularity 54 caveolin 54 Supplementary Fig 54 hypothalamic pituitary 54 amino acid substitution 54 hyperplastic 54 monophyletic 54 proteolysis 54 scavenger receptor 54 Fig. 3a 54 clonally 54 MGUS 54 inherited mutations 54 L. pneumophila 54 alleles 54 HER2 neu 54 null mice 54 HFE gene 54 somatic mutations 54 UGT#B# 54 SHANK3 54 leucine zipper 54 MRSA isolates 54 selective antagonists 54 DNA demethylation 53 monozygotic twins 53 hormone aldosterone 53 brucei 53 gene polymorphisms 53 maternally transmitted 53 MEK1 53 phenotypically 53 heterozygosity 53 introgression 53 SRY gene 53 CD1d 53 Parkinsonian 53 polyploidy 53 pRb 53 urinary calculi 53 chromosomal instability 53 A. gambiae 53 previously undescribed 53 suppressor gene 53 C#BL 6 mice 53 rs# [004] 53 dimeric 53 genetic polymorphisms 53 LRRK2 gene 53 subfamilies 53 nucleotide substitution 53 mutant alleles 53 genetic lineages 53 EBNA1 53 transcriptionally active 53 indels 53 hemoglobins 53 haplogroups 53 hypogonadotropic hypogonadism 53 poxvirus 53 p# mutation 53 GLUT1 53 APOE4 53 TACI mutations 53 hereditary deafness 53 proline rich 53 recessive traits 53 disulfide bond 53 sporadic Creutzfeldt Jakob 53 TGFBR1 * 6A 53 CFTR gene 53 pathognomonic 53 LIS1 53 neural crest 53 multigene 53 HLA gene 53 Phytophthora species 53 BMP receptor 53 codon usage 53 endocannabinoid signaling 53 renal fibrosis 53 endophenotypes 53 parthenogenetic 53 essential thrombocythemia 53 neurosensory 53 epigenetic mechanisms 53 F actin 53 Hashimoto thyroiditis 53 metabolizing enzymes 53 cellular prion protein 53 phenotypic 53 Apobec3 53 progressive neurodegenerative disorder 53 mutant huntingtin protein 53 JAK STAT 53 M1 muscarinic 53 Eukaryotes 53 prion protein PrP 53 gonadotropins 53 parkin gene 53 TPMT 53 Dilated cardiomyopathy 53 ciliates 53 parkinsonism 53 oncogenic transformation 53 mitochondrial mutations 53 syntaxin 53 MSH2 53 Fig. 1C 53 heritable variation 53 malarial parasites 53 hamartomas 53 distinct subtypes 53 gene polymorphism 53 Proteobacteria 53 Apolipoprotein E 53 rotaviruses 53 ERK2 53 insulin signaling pathway 53 RCAN1 53 clonal expansion 53 centromeric 53 FMR1 gene 53 isoenzyme 53 tumorigenicity 53 CNTNAP2 53 breast cancer subtypes 53 CDKN2A 53 enzymatic activity 53 transgenic mice expressing 53 opsin 53 predisposing factors 53 morphological traits 53 Genetic variants 53 vacuolar 53 HCMV 53 hypermethylated 53 glycosyltransferase 53 clinicopathological 53 epigenetic modification 53 histone modification 53 nucleoli 53 morphogen 53 microRNA miR 53 MC1R 53 pituitary hormone 53 germline 52 autonomic dysfunction 52 TEL AML1 52 CCR5 delta# 52 MT1 MMP 52 drug metabolizing enzymes 52 MEFs 52 epithelial barrier 52 muscarinic receptors 52 outbred 52 deleterious mutations 52 DNA methylation patterns 52 neurological manifestations 52 TRIM5 52 genes encoding 52 inbreeding depression 52 miRNAs miR 52 adherens junctions 52 heritable trait 52 dopamine transporter gene 52 autosomal dominant inheritance 52 pathogenic mechanisms 52 olfactory receptor 52 Inflammatory bowel disease 52 viral etiology 52 dysgenesis 52 fungal colonization 52 FGFR3 52 haplotypes 52 polymorphism 52 Trypanosoma brucei 52 Runx1 52 HLAs 52 CFH gene 52 HLA DRB1 52 intronic 52 #q# deletion 52 ω 52 δ 52 bimodal distribution 52 NKG2D 52 HLA DQ2 52 coding sequences 52 paragangliomas 52 phenotypic traits 52 Nicotine dependence 52 striated muscle 52 immunofluorescence staining 52 clades 52 Genetic mutations 52 inhibitory receptor 52 amino acid residues 52 STAT4 52 seminomas 52 mitochondrial DNA mutations 52 mRNA decay 52 somatic mutation 52 CagA 52 CDH# 52 mineralocorticoid 52 immunoreactivity 52 #HT#A receptor 52 eukaryotic cell 52 Alleles 52 vectorial 52 cytoplasmic tail 52 evolutionarily conserved 52 aetiological 52 major histocompatibility complex 52 tyrosine residues 52 Phylogenetic analysis 52 Supplementary Table 52 Leydig cells 52 serine protease 52 beta subunit 52 neuropsychiatric disorder 52 DRB1 * 52 histologic subtypes 52 biotypes 52 locus coeruleus 52 intergenic 52 ontogenetic 52 TGFBR1 52 lactase persistence 52 Fig. 2C 52 membrane proximal 52 Dpp 52 Fig. 3A 52 chromosomal alterations 52 Sjögren syndrome 52 developmental abnormalities 52 aneuploid cells 52 APOE genotype 52 APOE gene 52 MAPK pathway 52 differentially expressed genes 52 filaggrin gene 52 vaginal flora 52 epigenetically 52 haplotype 52 metabolic abnormalities 52 morphologic 52 #p#.# [002] 52 Alu elements 52 TCF#L# 52 hippocampal neurons 52 junctional 52 monogenic disorders 52 Htt 52 inherited maternally 52 lysosomal storage disease 52 LPA gene 52 endosymbiont 52 IGF2 52 lactase gene 52 S. cerevisiae 52 gametophyte 52 neoplasm 52 intergenic regions 52 COL#A# 52 HMGA2 gene 52 hepatic lipase 52 vasopressin receptor 52 mutant worms 52 CHD5 52 diploid 52 orthologous 52 ribosomal protein 52 pea aphid 52 QTLs 52 Agrobacterium tumefaciens 52 systemic amyloidosis 52 FGFs 52 gene p# 52 MHC genes 52 malaria parasite Plasmodium falciparum 52 tRNA synthetase 52 genotypes 52 circadian genes 52 recessive genes 52 homozygous 52 susceptibility genes 52 familial ALS 52 SNP rs# [002] 52 congenital disorders 52 epigenetic inheritance 52 nAChRs 52 hybridizations 52 G6PD deficiency 52 myeloproliferative 52 germline cells 52 acute rheumatic fever 52 neurodevelopmental disorder 52 chromosome abnormality 52 glucose transporter 52 Haptoglobin 51 biotype 51 antitumor efficacy 51 B. subtilis 51 cytoplasmic domain 51 papillomavirus 51 sexually dimorphic 51 motoneurons 51 DQB1 * 51 neutralizing antibody responses 51 mice lacking 51 CHI#L# 51 adipocyte 51 bronchial epithelial cells 51 subclinical 51 rhesus 51 constitutively active 51 chemokine receptor 51 HHV 6 51 Trichinella 51 cagA 51 gametocytes 51 microcephalin 51 hydrolase 51 Thyroid hormone 51 Th2 responses 51 quasispecies 51 progranulin gene 51 immunodeficient 51 causal variants 51 lethal arrhythmias 51 multisystem disease 51 stomatal 51 Treg cell 51 biochemical abnormalities 51 muscular dystrophies 51 inherited retinal degeneration 51 N Myc 51 iron homeostasis 51 protein p# 51 thromboemboli 51 subcellular localization 51 heterochromatic 51 mutant gene 51 oligomerization 51 #S rRNA genes 51 Fig. 2a 51 recessive gene 51 S. neurona 51 receptor subtype 51 situs inversus 51 cotransporter 51 epigenetic reprogramming 51 multisystem disorder 51 symbiont 51 myostatin gene 51 Histologically 51 alpha secretase 51 Endometrial cancer 51 viral infectivity 51 PTEN tumor suppressor 51 breast epithelial cells 51 aldehyde dehydrogenase 51 neuroligins 51 transmembrane protein 51 hyperactivation 51 uPAR 51 occludin 51 neoplastic transformation 51 prognostic marker 51 bactericidal activity 51 cotyledon 51 operons 51 cofactors 51 NF1 51 Klinefelter syndrome 51 predisposing factor 51 NF1 gene 51 paternally inherited 51 agouti gene 51 gene duplications 51 Pax6 51 telomere DNA 51 amino acid substitutions 51 cone photoreceptors 51 heritable 51 autosomal recessive genetic 51 causative mutation 51 pilocytic astrocytomas 51 mammalian species 51 Mendelian disorders 51 FXTAS 51 oligomeric 51 VHL gene 51 proteinases 51 T. vaginalis 51 focal adhesions 51 Atopic dermatitis 51 viscoelastic properties 51 oxytocin receptor 51 monomorphic 51 generalized epilepsy 51 alexithymia 51 putative biomarkers 51 morphologically 51 Prevotella 51 chromatin modification 51 abnormal prion protein 51 outgroups 51 metabolic enzymes 51 aneuploid 51 hyperkeratosis 51 ERBB2 51 phenotypic variability 51 distinct lineages 51 neurofibromas 51 fig. S1 51 PNET 51 beta defensin 51 intraspecific 51 untranslated regions 51 haemolytic anemia 51 antisera 51 rostral 51 papillomas 51 MHC molecules 51 Genetic predisposition 51 pleiotropy 51 E#F# 51 pleiotropic 51 mutation 51 secretory 51 Igf2 51 figs. 51 RRM1 51 IgG4 51 hereditary predisposition 51 sequenced genomes 51 comorbid disorders 51 pathogenic mutations 51 prognostic markers 51 holoprosencephaly 51 enterocolitis 51 Fig. 3b 51 genetic aberrations 51 Male pattern baldness 51 mutated gene 51 chaperone proteins 51 vascular cognitive impairment 51 HepG2 cells 51 P. infestans 51 proto oncogene 51 eccrine 51 Single Nucleotide Polymorphisms SNPs 51 cDNAs 51 Aortic stenosis 51 postsynaptic 51 metabolomic profiles 51 pseudogene 51 perivascular 51 globin genes 51 trait locus 51 ribosomal DNA 51 autoregulation 51 chromosomal deletions 51 constitutively 51 nonsynonymous 51 CCR7 51 Genetic mutation 51 Rab5 51 CD#b 51 fig. S4 51 SLC#A# [001] 51 leiomyoma 51 fig. S# 51 Beta thalassemia 51 plastid 51 ectodermal dysplasia 51 histopathological 51 provirus 51 1alpha 51 cardiolipin 51 sexually reproducing 51 glycolipids 51 ROC curves 51 genetic determinants 51 genetic trait 51 TLR signaling 51 genetically inherited 51 nucleotide sequence 51 receptor subtypes 51 underlying pathophysiology 50 ependymomas 50 transmembrane domain 50 neoplastic 50 adaptive immunity 50 sRNA 50 histone modifications 50 demethylase 50 transcriptomes 50 hypothalamus pituitary 50 ortholog 50 mutant strain 50 #p# [001] 50 gastric carcinomas 50 transgenic rats 50 alpha thalassemia 50 familial aggregation 50 Fibroblasts 50 homologies 50 hyperactivated 50 piRNAs 50 raphe 50 mousepox 50 Magnesium deficiency 50 primate lineage 50 Foxp3 50 asplenia 50 Borrelia 50 lymphangiogenesis 50 rs# [002] 50 dimorphic 50 myeloproliferative neoplasms 50 gastric mucosa 50 lysosomal 50 IGF1 50 HERV 50 humoral immunity 50 bandgaps 50 Irritable bowel syndrome 50 nephron 50 epithelial tissues 50 Cowden syndrome 50 Candida infection 50 cysteine protease 50 tumor subtypes 50 homologues 50 β1 50 lymphotoxin 50 pigment melanin 50 non coding RNA 50 Toxoplasma 50 DNMT1 50 Phenotypic 50 Schizoaffective disorder 50 haploid 50 autoinflammatory 50 virions 50 Cockayne syndrome 50 dimorphism 50 lincRNA 50 BARD1 50 #S rRNA gene 50 nucleolar 50 Dysregulation 50 hypervariable 50 single celled yeast 50 pustular 50 metalloprotease 50 deacetylation 50 aminopeptidase 50 corpus luteum 50 hyperinsulinemia 50 granulosa cell 50 G allele 50 morphogenetic 50 synaptic vesicle 50 LRRK2 mutations 50 FMR1 50 idiopathic myelofibrosis 50 V3 loop 50 tumor suppressor protein 50 Vps# 50 Atopic 50 EF Tu 50 spinocerebellar ataxia 50 genetic recombination 50 Oxidative stress 50 transferase 50 chromatin structure 50 fruitfly Drosophila 50 Autoimmune diseases 50 chitinase 50 receptor kinase 50 GABAA receptor 50 odorant receptor 50 endogenous retroviruses 50 pleiotropic effects 50 histone methylation 50 activating mutation 50 amphioxus 50 stereochemical 50 R. equi 50 microbiota 50 genomic instability 50 organogenesis 50 retrotransposon 50 mRNA molecules 50 immuno deficiency 50 operon 50 hypocretin neurons 50 autoimmune thyroiditis 50 BALB c 50 leucocytes 50 IL6 50 TTR amyloidosis 50 photoperiod 50 P. patens 50 pathogenic fungus 50 lung epithelium 50 subtype 50 Prefrontal 50 Hereditary angioedema 50 thrombospondin 50 Xenopus laevis 50 Drosophila melanogaster 50 exfoliative glaucoma 50 filaggrin 50 hypothalamic pituitary axis 50 eIF2 50 protein isoforms 50 noradrenergic 50 polymicrobial 50 Vpu 50 primary cilia 50 genomewide 50 polyploids 50 depolarizing 50 H#K# [001] 50 genetic relatedness 50 cardiac fibrosis 50 #S rDNA 50 beta globin gene 50 IRE1 50 OPRM1 gene 50 Pulmonary hypertension 50 proteolytic activity 50 TCF#L# gene 50 splice variants 50 autoinflammatory diseases 50 chromosome condensation 50 oncoproteins 50 cytoplasmic 50 ovarian hormones 50 Fig. 3B 50 serotonin transporter 50 cAMP signaling 50 dizygotic 50 metabolic dysfunction 50 superfamily 50 phospholipase 50 Hutchinson Gilford progeria 50 metabolic abnormality 50 biogenesis 50 condensin 50 homolog 50 eosinophilic 50 eukaryote 50 peptide antigens 50 defensin 50 cytologically 50 leptin receptor 50 laterality 50 optic atrophy 50 subcellular compartments 50 genomic variants 50 At#g# 50 mediated inhibition 50 neurofibroma 50 Jhdm2a 50 neurobiological mechanisms 50 5q 50 PrPSc 50 aneuploidy 49 polynucleotide 49 prion infection 49 H#K# [002] 49 tubule 49 subtyping 49 transcriptional regulation 49 lateralization 49 dysbindin 49 GATA4 49 endocytic 49 gene loci 49 chronicity 49 C#Y 49 nonsense mutations 49 MYH9 49 Kufs disease 49 SLC#A# [002] 49 autoimmune thyroid 49 genome rearrangements 49 prefrontal cortical 49 ovules 49 modulatory 49 chromosomal disorders 49 primordia 49 VEGF expression 49 morphological 49 spectrin 49 pathophysiological mechanisms 49 bioengineered mice 49 Heterogeneity 49 genomic alterations 49 Fig. 2b 49 KIAA# 49 #S ribosomal RNA 49 Mycobacterium smegmatis 49 NKX#.# 49 SOX9 49 peptide inhibitors 49 presenilin 49 calcium homeostasis 49 microfilariae 49 dedifferentiation 49 cathepsin B 49 PALB2 49 IKK2 49 cysteines 49 unmethylated 49 CPEB 49 Spinal muscular atrophy 49 nondemented 49 chromosomal anomalies 49 subtypes 49 loci 49 vertebrate embryos 49 GABRA2 49 evolvability 49 prokaryote 49 Fragile X gene 49 monoclonal gammopathy 49 oligodendrocyte 49 mtDNA 49 Pseudomonas syringae 49 COMT gene 49 NPM1 gene 49 Paneth cells 49 Chronic pancreatitis 49 familial pancreatic cancer 49 Nod1 49 monozygotic twin 49 kinase domain 49 molecular subtypes 49 striata 49 Neuregulin 1 49 recessively inherited 49 Androgen receptor 49 intron 49 microRNA molecules 49 dizygotic twins 49 Multivariate analysis 49 phosphatases 49 osteogenic differentiation 49 genetic alteration 49 cognitive affective