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(Click for frequent words.) 72 genetic abnormalities 70 genetic defect 69 genetic mutations 68 gene mutations 67 chromosomal abnormalities 65 mutations 65 genetic mutation 64 genetic disorders 63 hereditary diseases 63 gene mutation 63 congenital disorders 62 developmental abnormalities 62 defective gene 62 genetic abnormality 62 mutant genes 62 mutant gene 62 mutated gene 62 mutated genes 61 abnormalities 61 inherited mutations 61 inheritable diseases 61 aneuploidies 61 mutation 61 hereditary disorders 60 chromosomal defects 60 nonsense mutations 60 Meckel Gruber 60 recessive genes 60 de novo mutations 60 spontaneous mutations 59 chromosome abnormalities 59 chromosomal disorders 59 chromosomal anomalies 59 CFTR gene 59 mitochondrial mutations 59 RPE# 58 familial adenomatous polyposis 58 epigenetic changes 58 aneuploidy 58 toxoplasmosis 58 BRCA1 gene 58 chromosomal defect 58 Fragile X gene 57 BRCA2 gene 57 MECP2 gene 57 CHD7 57 chromosome abnormality 57 HGPS 57 genetic 57 mitochondrial dysfunction 57 Fanconi anemia 57 MCAD deficiency 57 mitochondrial disorders 57 mitochondrial diseases 57 microdeletion 57 familial ALS 57 holoprosencephaly 57 recurrent miscarriages 57 causative gene 56 genetic alterations 56 neural tube defect 56 retinal degeneration 56 mosaicism 56 FMRP protein 56 MYH9 gene 56 gene 56 genes 56 chromosome rearrangements 56 achromatopsia 56 hereditary disorder 56 mtDNA mutations 56 LQTS 56 malformations 56 chromosomal alterations 56 NF1 56 motor neuron degeneration 56 leptin deficiency 56 genetically inherited 56 abnormal chromosomes 55 SMN protein 55 susceptibility genes 55 genetic disorder 55 recessive mutations 55 MSH2 55 Tay Sachs 55 autosomal recessive 55 congenital defects 55 LIS1 55 Angelman syndrome 55 G#S mutation 55 germline cells 55 SMN1 55 epigenetic alterations 55 BRAF gene 55 chromosomal rearrangement 55 chromosomal instability 55 FMR1 gene 55 degenerative disorder 55 SOD1 gene 55 genetic variations 55 causative genes 55 prion disease 55 tumor suppressor protein 55 mutant protein 55 muscular dystrophies 54 recessive gene 54 MCADD 54 abnormal prions 54 FTLD 54 gene variants 54 VHL gene 54 nerve degeneration 54 cardiac channelopathies 54 mitochondrial disease 54 Tay Sachs disease 54 myotonic dystrophy 54 AAT deficiency 54 malignant transformation 54 HNPCC 54 Spinal muscular atrophy 54 epigenetic markers 54 embyros 54 mammary cells 54 p# mutations 54 neurodegenerative disorder 54 nonsense mutation 54 familial pancreatic cancer 54 Leber congenital amaurosis LCA 54 SMN1 gene 54 dominantly inherited 54 filaggrin 54 Joubert syndromes 54 germline mutations 54 chromosomal abnormality 54 genomic instability 54 genetic markers 54 microdeletions 54 micro RNAs 54 SMN2 54 sporadic ALS 54 PALB2 gene 54 Peutz Jeghers syndrome 54 congenital abnormalities 54 inherited retinal degeneration 54 chromosomal aberrations 54 galactosemia 54 Beckwith Wiedemann syndrome 54 Fragile X Syndrome 54 RPE# gene 54 Rh incompatibility 54 recessive trait 53 mutant alleles 53 LRRK2 gene 53 cybrids 53 HbF 53 ovarian tumors 53 genetic trait 53 neural cells 53 PALB2 53 polyomavirus nephropathy 53 genetic alteration 53 maternally inherited 53 diaphragmatic hernia 53 congenital anomalies 53 brain malformation 53 huntingtin gene 53 genetic syndromes 53 brain lesions 53 tumor suppressor gene 53 hereditary hemochromatosis 53 genetic predisposition 53 spontaneous mutation 53 susceptibility gene 53 molecular abnormalities 53 genetically 53 beta thalassemia 53 phenotypic variation 53 Mitochondrial diseases 53 myelomeningocele 53 PTEN mutations 53 bone deformities 53 chromosomal rearrangements 53 diseases 53 chromosomal anomaly 53 medulloblastomas 53 chromosomal disorder 53 LKB1 53 breast cancer genes BRCA1 53 mutant huntingtin protein 53 Li Fraumeni syndrome 53 hereditary predisposition 53 inbreeding depression 53 Kufs disease 52 BRCA1 52 undiagnosed celiac disease 52 SOD1 protein 52 heritable 52 TP# mutation 52 neuro developmental 52 herpesviruses 52 IgA deficiency 52 heterotaxy 52 IVF embryos 52 Muscular dystrophies 52 chimeric mice 52 neuronal stem cells 52 diagnosis PGD 52 heritable diseases 52 CDH1 52 Li Fraumeni 52 senescent cells 52 mitochondrial defects 52 piRNAs 52 ApoE4 gene 52 phthalate syndrome 52 hereditary deafness 52 mutant worms 52 faulty BRCA1 gene 52 limb malformations 52 ataxias 52 chromosome aberrations 52 SRY gene 52 congenital hypothyroidism 52 DNA methylation patterns 52 hereditary blindness 52 shortened telomeres 52 CNTNAP2 52 DSBs 52 prion proteins 52 Prion diseases 52 congenital blindness 52 limb deformities 52 neurodevelopmental disorders 52 phenotype 52 epigenetically 52 PTEN gene 52 CHDs 52 filaggrin gene 52 Krabbe Disease 52 CNTNAP2 gene 52 missense mutation 52 Genetic variants 52 genetically defective 52 C1q 52 subclinical 52 autosomal recessive disease 52 Retinitis pigmentosa 52 Genetic mutations 52 incurable genetic 52 Becker muscular dystrophy 52 abnormal chromosome 52 genetic manipulations 52 recessive genetic 52 spinal muscular atrophy SMA 52 genetic traits 52 chromosomally normal 52 somatic mutations 52 FXTAS 52 neuroligins 52 BRIP1 51 BRCA2 breast cancer 51 fatal neurodegenerative 51 NEIL1 51 APOE gene 51 monogenic disorders 51 Neural stem cells 51 STAT4 51 alpha thalassemia 51 genomic variants 51 chromosomal translocations 51 chromosomal 51 APOL1 51 Brugada Syndrome 51 mitochondrial DNA mutations 51 Male infertility 51 PTPN# 51 aneuploid cells 51 p# mutation 51 muscular dystrophy cystic fibrosis 51 transgenic rats 51 prion infection 51 genomic rearrangements 51 neurodevelopmental disorder 51 Preimplantation genetic diagnosis 51 Dravet syndrome 51 CHEK2 51 germline mutation 51 X chromosome 51 NF2 51 alleles 51 dyskeratosis congenita 51 deleterious mutations 51 neurological diseases 51 tau protein 51 inheritable genetic 51 retinal dysfunction 51 GFP gene 51 IKZF1 51 IUGR 51 dystrophin gene 51 GBA mutations 51 SMN2 gene 51 iPSCs 51 genetic imprinting 51 abnormal growths 51 PrPSc 51 LRRK2 mutations 51 Hutchinson Gilford progeria 51 primordial germ cells 51 male infertility 51 aneuploid 51 genetic variation 51 blastomeres 51 sCJD 51 prion protein gene 51 epigenetic 51 embryonal 51 congenital disorder 51 BRCA genes 51 disease familial dysautonomia 51 imprinted genes 51 ataxia telangiectasia 51 Parkinson disease neurodegenerative disorder 51 physiological abnormalities 51 suppressor gene 51 abnormal proteins 51 neurodegenerative disease 51 premature menopause 51 genetic aberrations 51 hippocampal function 51 progranulin gene 51 Apert syndrome 51 premature ovarian 51 progranulin 51 granule cells 51 amyloid deposition 51 HPRT gene 51 Folic acid deficiency 51 Pten 51 familial adenomatous polyposis FAP 51 karyotypes 51 beta catenin protein 51 testicular tumors 51 protein misfolding 51 BRCA mutation 51 chromosome translocations 51 Klotho gene 51 neurological degeneration 51 intestinal polyps 51 SLC#A# gene [001] 51 misfolding 51 causal variants 51 LMNA 51 neural crest 51 genetic susceptibility 51 egg follicles 51 heterozygous 51 HLA genes 51 genes predisposing 51 pilocytic astrocytomas 51 untreated celiac disease 51 SOD1 mutations 50 CNVs 50 neural crest cells 50 gene fusions 50 phenotypes 50 congenital deafness 50 birth defects 50 FGFR2 50 mutated protein 50 epigenetic mechanisms 50 BMPR2 50 Genetic predisposition 50 recessive mutation 50 BARD1 50 Htt 50 Notch1 50 genetic variants 50 chromosome #q#.# [001] 50 dizygotic twins 50 defects 50 organophosphate exposure 50 translocations 50 SORL1 gene 50 neurodevelopmental 50 prion diseases 50 DISC1 gene 50 trophoblasts 50 mental retardation epilepsy 50 BCL#A 50 heritable genetic 50 #q#.# [001] 50 G6PD deficiency 50 autosomal 50 inbreeding 50 genes BRCA1 50 FMR1 50 SHANK3 50 mutant allele 50 hemochromatosis 50 CTVT 50 leukaemic stem cells 50 neuro degenerative disease 50 BRCA1 mutations 50 Hashimoto thyroiditis 50 monogenic 50 mRNA transcripts 50 KIT mutations 50 neurofibromas 50 embryo biopsy 50 mtDNA 50 severe congenital neutropenia 50 HFE gene 50 beta1 integrin 50 apoE 50 teratoma 50 spinocerebellar ataxia 50 gamma globin gene 50 systemic amyloidosis 50 nonhereditary 50 endostatin 50 Noonan Syndrome 50 testicular germ cell 50 KRAS oncogene 50 gene rearrangements 50 dyscalculia 50 MLL gene 50 fetal hemoglobin 50 epigenetic modifications 50 OGG1 50 sortilin 50 germ cells 50 cystic fibrosis transmembrane conductance 50 normal prion protein 50 motor neuron diseases 50 APOE4 50 unexplained infertility 50 Lafora disease 50 MeCP2 protein 50 deformities 50 deleterious mutation 50 Embryos 50 mutant SOD1 50 G6PD 50 autism spectrum disorders ASDs 50 clefting 50 IRAK1 50 miRNA genes 50 mutated BRCA1 50 hydrops 50 Joubert syndrome 50 genetically engineered mice 50 homozygosity 50 hereditary breast cancer 50 R. equi 50 fatal neuromuscular disorder 50 genomic deletions 50 familial hypercholesterolaemia 50 fronto temporal dementia 50 germline 50 infertility 50 skeletal malformations 50 genotoxic stress 50 synaptic function 50 MYCN amplification 50 aneuploidy screening 50 homocystinuria 50 retinitis pigmentosa RP 50 atypical scrapie 50 neuropsychological impairments 50 TACI mutations 50 CGG repeats 50 Mitochondrial DNA 50 Cancerous cells 50 activating mutations 50 parkin gene 50 SHANK3 gene 50 degenerative neurological diseases 49 behavioral abnormalities 49 TP# gene 49 tumor suppressor genes 49 Bardet Biedl syndrome 49 reproductive endocrine 49 polycystic ovarian syndrome PCOS 49 β amyloid 49 causative mutation 49 trisomy 49 polydactylism 49 cognitive deficits 49 immunodeficiency disorder 49 Fragile X syndrome 49 autosomal dominant 49 polycystic ovary syndrome PCOS 49 malformation 49 neurological sequelae 49 LRAT 49 neural stem cells 49 connexin 49 leaky gut 49 abnormal hemoglobin 49 TMEM#B 49 tau gene 49 epidermolysis bullosa EB 49 histone code 49 MeCP2 gene 49 neuropsychiatric disorder 49 presymptomatic 49 induce pluripotency 49 mucins 49 C#Y 49 defective cilia 49 WDR# 49 herpes viruses 49 chromosomal deletions 49 Hip dysplasia 49 MLH1 49 penetrance 49 MECP2 49 Vitamin B# deficiency 49 autism spectrum disorders 49 dopaminergic cells 49 biochemical imbalances 49 immunodeficiencies 49 MLL2 49 BRCA2 mutation 49 pathogenic mutations 49 beta globin gene 49 phenotypic variability 49 SOX3 gene 49 cybrid 49 dopamine transporter gene 49 infertility miscarriages 49 T. gondii 49 mice lacking 49 MTHFR gene 49 facial clefts 49 basal cell nevus syndrome 49 JAK mutations 49 misregulation 49 microcephalin 49 podocytes 49 recessive traits 49 hamartomas 49 epigenetic modification 49 CMV infections 49 ADPKD 49 Dpp 49 p# activation 49 atherosclerotic lesions 49 multigenic 49 SORL1 49 prion protein 49 chromosomes 49 chromosomal mutations 49 KCNH2 49 monozygotic twin 49 developmental disorders 49 mammary tissue 49 EZH2 49 monozygotic twins 49 mouse testes 49 gene variant 49 BRCA2 49 cystic fibrosis sickle cell 49 chitinase 49 telomere DNA 49 WT1 49 DICER1 49 fetal malformations 49 BRCA1 BRCA2 49 Dwarfism 49 lissencephaly 49 alpha synuclein protein 49 Hsp# [001] 49 iPS cells 49 Leber congenital amaurosis 49 IGF2 49 miRNAs 49 pituitary tumors 49 prenatally diagnosed 49 ovarian hormones 49 defective mitochondria 49 placenta praevia 49 enzyme deficiency 49 immunodeficiency 49 chromosomal regions 49 glutamate signaling 49 microfilariae 49 Aneuploidy 49 gene deletions 49 renal fibrosis 49 GATA4 49 familial hypercholesterolemia 49 DiGeorge syndrome 49 proband 49 granulosa cell 49 prion infections 49 neuroblastomas 49 CIB1 49 neurological abnormalities 49 NPHP 49 colon tumors 49 congenital malformations 49 asymptomatic carriers 49 Cyclin D1 49 dystrophin protein 49 progerin 49 nongenetic 49 gastric carcinomas 49 malignant tissues 49 IgA antibodies 49 intestinal inflammation 49 MAPCs 49 Leptospira 49 pathologies 49 metabolic enzymes 49 GISTs 49 somatic mutation 49 Tay Sachs thalassemia 49 autosomal dominant disorder 49 oligodendrogliomas 49 retinal dystrophy 49 vitamin B# deficiency 49 prenatal diagnosis 49 prostate adenocarcinoma 49 mutant huntingtin 49 neuro developmental disorders 49 mammary cancers 49 teratomas 49 amyloid deposits 49 mammary gland tumors 49 CALHM1 49 involuntary tics 49 narcolepsy cataplexy 49 leptin resistance 49 spontaneous miscarriages 49 ApoE gene 49 normal prion proteins 49 persistent pulmonary hypertension 49 hip dysplasia 49 inherited predisposition 49 missense mutations 49 JAK2 mutation 49 Genetic variations 49 menin 49 genomic imprinting 49 CYP#E# gene 49 ependymoma 49 homologous recombination 49 Wolbachia strains 49 preimplantation genetic diagnosis PGD 49 JAK2 enzyme 49 leukodystrophies 48 KCNE2 48 proto oncogene 48 abnormality 48 Rh factor 48 recessive genetic disorders 48 leukaemic cells 48 p# gene 48 autistic traits 48 tumoral 48 neuronal dysfunction 48 SMAD4 48 Sandhoff disease 48 parthenogenetic 48 Autoimmune disorders 48 congenital cataract 48 environmental toxicants 48 auditory neuropathy 48 motor neuron disease 48 Hurler syndrome 48 cystic fibrosis muscular dystrophy 48 KIBRA 48 combined immunodeficiency SCID 48 genetically susceptible 48 Polymorphic Ventricular Tachycardia CPVT 48 thoracic aortic disease 48 chronic granulomatous disease 48 transgene expression 48 neural stem cell 48 mitochondrial proteins 48 progressive degeneration 48 haematopoietic 48 placental function 48 motor neuron 48 neural crest stem cells 48 epigenetic marks 48 klotho 48 DNA methylation 48 IDH1 48 Coeliac disease 48 chromosomal imbalance 48 SCN5A 48 MC1R 48 recurrent miscarriage 48 CFTR protein 48 genomic alterations 48 autoinflammatory diseases 48 Levy Lahad 48 human papillomaviruses HPV 48 DNA rearrangements 48 genetic susceptibilities 48 muscle degeneration 48 microRNA molecules 48 BRCA mutations 48 neuron degeneration 48 infertility miscarriage 48 medulloblastoma tumors 48 NF1 gene 48 misshapen proteins 48 BRCA gene 48 induced pluripotent cells 48 autoantibodies 48 APOE e4 48 NFKBIA 48 vasa previa 48 preimplantation genetic diagnosis 48 myelination 48 ependymomas 48 neurodegenerative 48 pseudotumor cerebri 48 E4 variant 48 epithelial tissues 48 neurofibromatosis type 48 IDH mutations 48 Hutchinson Gilford Progeria Syndrome 48 K ras mutations 48 matriptase 48 frontotemporal dementia 48 enterocolitis 48 gene APOE4 48 modifier genes 48 pluripotent cells 48 multidrug resistance 48 HMGA2 48 costimulatory 48 aniridia 48 cloned embryos 48 telomere dysfunction 48 FOXP2 48 bone marrow stem cells 48 Severe Combined Immunodeficiency 48 malignant tumors 48 Progeria 48 enzymatic activity 48 Folate deficiency 48 genetic determinants 48 Diamond Blackfan anemia 48 Down syndrome spina bifida 48 Newborn screening 48 haemochromatosis 48 TSEs 48 myopathies 48 fetal aneuploidy 48 lymphangioleiomyomatosis LAM 48 PON1 48 genetic makeup 48 precursor lesions 48 Tay Sachs Disease 48 NR#A# gene 48 hydatid disease 48 genetic polymorphisms 48 TP# mutations 48 bicuspid valve 48 amyloid plaque 48 chromosomal aberration 48 T1DM 48 amyloid peptide 48 fetal stem cells 48 Retinopathy 48 acute lymphoid leukemia 48 pyloric stenosis 48 recessive inheritance 48 ambiguous genitalia 48 TOMM# 48 infectious prion proteins 48 Phenylketonuria PKU 48 primary immunodeficiencies 48 noncoding RNAs 48 chromosomally abnormal 48 Myotonic dystrophy 48 allelic variation 48 ectodermal dysplasia 48 myotonia 48 diagnosed prenatally 48 GPC5 48 methylation 48 Sjögren syndrome 48 Menkes disease 48 inherited neurodegenerative 48 epigenetic regulation 48 highly heritable 48 intracytoplasmic 48 synaptogenesis 48 gene locus 48 human ESCs 48 outcrossing 48 familial dysautonomia 48 lymphatic vasculature 48 insulin secreting beta 48 MYH9 48 #q#.# [002] 48 germline stem cells 48 epigenetic silencing 48 Alu RNA 48 breast cancer metastasis 48 epithelial barrier 48 Colon polyps 48 polycystic ovary syndrome 48 Cystic fibrosis CF 48 exfoliation glaucoma 48 Duchenne muscular dystrophy DMD 48 amyloid proteins 48 CCR3 48 Osr2 48 microchimerism 48 disease 48 Klinefelter syndrome 48 hardened arteries 48 undifferentiated stem cells 48 normal karyotype 48 anovulation 48 IGF1 48 metabolic abnormalities 48 pancreatic endocrine 48 myostatin gene 48 degenerative neurological disorder 48 polyploids 48 folate metabolism 48 molar pregnancy 48 methylation patterns 48 Leydig cells 48 prematurity ROP 48 copper zinc superoxide 48 pneumococci 48 MIF protein 48 thalassemia 48 epigenetic reprogramming 48 homozygous FH 48 disorder thalassemia 48 deformed limbs 48 CMV infection 48 deafness neurological 48 array CGH 48 segmental duplications 48 Neurodegenerative diseases 48 crystallin 48 Usher syndrome 48 fertilized egg splits 48 luminal cells 48 promoter hypermethylation 48 diseased cells 48 underlying pathophysiology 48 bladder tumors 48 chromatin structure 48 Hirschsprung 48 splice junctions 48 Malignant tumors 48 Mendelian diseases 48 recessively inherited 48 blocked fallopian tubes 48 hematopoietic malignancies 48 hereditary spastic paraplegia 48 degenerative diseases 48 arterial calcification 48 stem cells 48 mitochondrial DNA 48 trophoblast cells 48 Genetic testing 48 Genetic mutation 48 Usher Syndrome 48 dystrophin 48 varicocele 48 gene BRCA2 48 transthyretin 48 BRCA gene mutation 48 Activating mutations 48 inherit predisposition 48 familial hypercholesterolaemia FH 48 Six3 48 NFkB 48 hormonal stimulation 48 MC1R gene 48 thymus 48 Intestinal parasites 48 herpes infection 48 fatal neurodegenerative disorder 48 von Hippel Lindau 47 genetically modified mice 47 sRNA 47 genomewide 47 Circulating tumor cells 47 folic acid deficiency 47 hypertrophic cardiomyopathy HCM 47 transdifferentiation 47 transfusion syndrome 47 LRRK2 47 JAK2 gene 47 spongiform encephalopathies 47 epigenetic inheritance 47 G#S [002] 47 renovascular hypertension 47 osteosarcomas 47 renal carcinoma 47 hypermethylated 47 APOE ε4 47 Mitochondrial 47 gene MECP2 47 progressive neurodegenerative disorders 47 genetic predispositions 47 transcriptional repression 47 antibodies 47 gene expression patterns 47 laforin 47 endocrine glands 47 non coding RNA 47 Crouzon Syndrome 47 spinal muscle atrophy 47 Rb gene 47 amyloid beta proteins 47 Imprinted genes 47 BRCA2 gene mutation 47 congenital adrenal hyperplasia CAH 47 measles virus 47 gene p# 47 Hirschsprung disease 47 Hh pathway 47 Alu elements 47 mutant proteins 47 Smith Lemli Opitz syndrome 47 muscle dystrophies 47 R#W [002] 47 inherited neurological disorder 47 unexplained mental retardation 47 scrapie 47 DISC1 47 FoxO3 47 parasitic flatworms 47 debilitating neurodegenerative disorder 47 congenital anomaly 47 chlamydiosis 47 BRCA1 mutation 47 nutritional deficiencies 47 tau proteins 47 colorectal cancer CRC 47 thyroid hormone deficiency 47 umbilical hernias 47 mutated K ras 47 mitochondrial DNA mtDNA 47 TSLP 47 chromosomally 47 pre implantation genetic 47 5 hydroxymethylcytosine 47 Hereditary angioedema HAE 47 protein tau 47 transcriptionally active 47 transgenic mice 47 congenital abnormality 47 mammary tumors 47 Stuttering tends 47 hematopoetic stem cells 47 virulence genes 47 prion protein PrP 47 ovarian hyperstimulation 47 SCA5 47 metabolic abnormality 47 VCFS 47 Toxoplasmosis 47 lactase deficiency 47 ADDLs 47 PTEN protein 47 Mendelian 47 fetal anomalies 47 MC4R gene 47 lincRNAs 47 malarial parasites 47 lentiviruses 47 intestinal epithelium 47 methylated DNA 47 TCF#L# gene 47 microRNAs miRNAs 47 epithelial stem cells 47 endocrine tumors 47 rhinovirus infection 47 BRCA2 gene mutations 47 pancreatic tissue 47 inherited genetic mutation 47 V#F mutation 47 neurodegeneration 47 intrauterine infection 47 Mutations 47 NF κB activation 47 inherited genetic mutations 47 neuro degenerative disorders 47 abort fetuses 47 colorectal polyps 47 heterozygotes 47 biochemical abnormalities