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(Click for frequent words.) 77 genetic mutation 75 gene mutation 73 defective gene 73 mutated gene 71 genetic abnormality 70 genetic defects 68 genetic disorder 67 Fanconi anemia 67 mutation 67 mutant gene 66 chromosome abnormality 65 genetic mutations 65 congenital disorder 65 hereditary disorder 64 enzyme deficiency 64 gene mutations 64 RPE# 64 brain malformation 63 degenerative disorder 63 myotonic dystrophy 63 chromosomal defect 63 genetic abnormalities 62 mutated genes 62 recessive gene 62 gene 62 genetic trait 62 mutations 62 mitochondrial disease 62 Fragile X Syndrome 62 Angelman syndrome 62 recessive trait 61 HGPS 61 autosomal recessive 61 neurodegenerative disorder 61 holoprosencephaly 61 inherited mutations 61 metabolic disorder 61 nonsense mutations 61 chromosomal abnormality 61 CHD7 61 mutant protein 60 Joubert syndrome 60 mitochondrial dysfunction 60 CFTR gene 60 autosomal dominant 60 genetic variant 60 mutant genes 60 malformation 60 congenital disorders 60 abnormalities 60 Fragile X syndrome 60 achromatopsia 60 recessive genes 60 chromosomal abnormalities 60 autosomal dominant disorder 60 Dravet syndrome 60 Brugada Syndrome 60 SMN protein 60 SMN1 59 cardiac hypertrophy 59 nonsense mutation 59 G#S mutation 59 Hashimoto thyroiditis 59 chromosomal disorder 59 hypertrophic cardiomyopathy HCM 59 galactosemia 59 genes 59 Leber congenital amaurosis 59 MECP2 gene 59 birth defect 59 aneuploidies 59 mosaicism 59 de novo mutations 59 Duchenne muscular dystrophy DMD 59 Cockayne syndrome 59 abnormal hemoglobin 59 FMR1 gene 59 beta thalassemia 59 neurological disorder 59 autosomal recessive disease 58 dyskeratosis congenita 58 Tay Sachs disease 58 NF1 58 BRCA1 gene 58 genetic disorders 58 gene variant 58 neural tube defect 58 SMN2 58 epigenetic alterations 58 DiGeorge Syndrome 58 epigenetic changes 58 genetic variation 58 HMGA2 58 Meckel Gruber 58 X chromosome 58 degenerative neurological disorder 58 genetic variations 58 mitochondrial mutations 58 sporadic ALS 58 spinocerebellar ataxia 58 chromosomal anomaly 58 Niemann Pick disease 58 tumor suppressor gene 58 chromosome abnormalities 58 dystrophin gene 57 MCAD deficiency 57 DiGeorge syndrome 57 malformations 57 Lafora disease 57 VHL gene 57 pyloric stenosis 57 hemochromatosis 57 BRCA2 gene 57 genetically inherited 57 osteogenesis imperfecta 57 Beckwith Wiedemann syndrome 57 genetic alterations 57 ADPKD 57 spastic paraplegia 57 Spinal muscular atrophy 57 genetic alteration 57 Kufs disease 57 progerin 57 developmental abnormalities 57 neuropsychiatric disorder 57 IGF1 57 inherited genetic mutation 57 mutated protein 57 spontaneous mutation 57 ectodermal dysplasia 57 causative gene 57 spinal muscular atrophy SMA 57 Peutz Jeghers syndrome 57 receptor protein 57 familial adenomatous polyposis 57 molecular mechanism 57 spontaneous mutations 56 nerve degeneration 56 Leber congenital amaurosis LCA 56 mtDNA mutations 56 inherited neurological disorder 56 hydrops 56 dystrophin protein 56 Friedreich ataxia 56 gene MECP2 56 SOD1 protein 56 biliary atresia 56 neurodevelopmental disorder 56 hereditary deafness 56 hereditary disorders 56 filaggrin 56 Rett syndrome 56 Apert syndrome 56 huntingtin gene 56 fatal neuromuscular disorder 56 Krabbe Leukodystrophy 56 IgA deficiency 56 ataxia telangiectasia 56 fronto temporal dementia 56 chronic granulomatous disease 56 causative genes 56 genetic syndromes 56 Hutchinson Gilford progeria 56 familial hypercholesterolemia 56 inherited retinal degeneration 56 genetic predisposition 56 CNTNAP2 gene 56 mutant huntingtin protein 56 APOE gene 56 leptin resistance 56 progressive neurodegenerative disorder 56 MLL gene 56 Fragile X gene 56 Marfan syndrome 56 gene variants 56 MECP2 56 BRAF gene 56 recurrent miscarriages 56 Noonan Syndrome 56 MYH9 gene 56 retinal degeneration 56 severe congenital neutropenia 55 recessive mutation 55 dominantly inherited 55 TP# mutation 55 FXTAS 55 ARID1A 55 pseudotumor cerebri 55 recessive mutations 55 RPE# gene 55 tumor suppressor protein 55 apoE4 55 CDH1 55 NF2 55 recessive genetic 55 motor neuron disease 55 Klinefelter syndrome 55 chromosomal anomalies 55 blood clotting disorder 55 Hutchinson Gilford Progeria Syndrome 55 molecular pathway 55 mitochondrial diseases 55 progranulin 55 dilated cardiomyopathy 55 LKB1 55 GATA4 55 Muscular dystrophy 55 lissencephaly 55 limb deformities 55 ovarian tumors 55 incurable genetic 55 NF1 gene 55 fatal neurodegenerative 55 beta globin gene 55 prion disease 55 pituitary tumors 55 IGF2 55 polydactylism 55 toxoplasmosis 55 Coeliac disease 55 FTLD 55 Progeria 55 cardiac channelopathies 55 LRRK2 gene 55 Becker muscular dystrophy 55 Leber hereditary optic neuropathy 55 Myotonic dystrophy 55 congenital blindness 55 LIS1 55 susceptibility gene 55 Li Fraumeni syndrome 55 familial ALS 55 phenotype 55 protein misfolding 55 congenital 55 gene variation 55 SOD1 gene 55 PTEN gene 55 aneuploidy 55 biochemical pathway 55 AAT deficiency 55 monogenic 55 muscular dystrophies 55 Loeys Dietz syndrome 55 mice lacking 55 dystrophy 54 Fanconi Anemia 54 GRK2 54 C1q 54 fetal hemoglobin 54 Proteus syndrome 54 microdeletion 54 SMN2 gene 54 Sanfilippo syndrome 54 SORL1 54 congenital deafness 54 herpes viruses 54 FMRP protein 54 congenital abnormality 54 dysgenesis 54 lactase deficiency 54 Sandhoff disease 54 epidermolysis bullosa EB 54 septo optic dysplasia 54 Spina bifida 54 retinal dysfunction 54 hip dysplasia 54 neurofibromas 54 chromosomal disorders 54 medulloblastomas 54 hereditary blindness 54 neuro degenerative disease 54 chromosomal rearrangement 54 Retinitis pigmentosa 54 Six3 54 HFE gene 54 Meckel Gruber syndrome 54 progressive neurodegenerative disease 54 progressive degeneration 54 parkin gene 54 NOTCH1 54 rare chromosomal disorder 54 skeletal malformations 54 degenerative neurological disease 54 inherited predisposition 54 filaggrin gene 54 NFkB 54 Male pattern baldness 54 dystrophin 54 congenital adrenal hyperplasia CAH 54 phthalate syndrome 54 mitochondrial defects 54 hereditary predisposition 54 Hirschsprung disease 54 cardiac fibrosis 54 Bardet Biedl syndrome 54 leptin deficiency 54 fibrodysplasia ossificans progressiva 54 fatty liver disease 54 diaphragmatic hernia 54 bone deformities 54 motor neuron degeneration 54 Beta thalassemia 54 WDR# 54 hyperactivation 54 LQTS 54 apoE 54 Wnt signaling 54 polycystic kidneys 54 Diamond Blackfan anemia 54 abnormal chromosomes 54 arrhythmogenic right 54 genomic instability 54 calcineurin 54 heterotaxy 54 breast cancer genes BRCA1 54 spastic diplegia 54 p# gene 54 myelomeningocele 54 neuroblastomas 54 myostatin gene 54 LRAT 54 eosinophilic esophagitis 54 ApoE4 gene 54 globin 54 misregulation 54 genetically 54 podocytes 54 molecular abnormalities 54 LMNA 54 chromosomal defects 54 receptor molecule 54 STAT4 54 teratoma 54 collagen VI 53 anencephaly 53 chromosome rearrangements 53 cardiomyopathy 53 underactive thyroid gland 53 hereditary hemochromatosis 53 Aplastic anemia 53 MSH2 53 immunodeficiency 53 muscle degeneration 53 achondroplasia 53 Angelman Syndrome 53 Cystic fibrosis 53 hypertrophic cardiomyopathy 53 Hutchinson Gilford Progeria 53 arthrogryposis 53 Hypophosphatasia 53 Dystrophin 53 Hurler syndrome 53 medium chain acyl 53 gene p# 53 missense mutation 53 retrovirus 53 epigenetic modifications 53 cerebellar hypoplasia 53 misfolding 53 underlying pathophysiology 53 Genetic mutation 53 Hirschsprung Disease 53 APOE4 53 abnormality 53 IRAK1 53 neurodegenerative disease 53 Fragile X 53 synovial sarcoma 53 maternally inherited 53 APOL1 53 untreated celiac disease 53 xeroderma pigmentosum 53 congenital defects 53 combined immunodeficiency SCID 53 MeCP2 gene 53 congenital anomaly 53 genes predisposing 53 intestinal inflammation 53 Joubert syndromes 53 skeletal dysplasia 53 homocystinuria 53 inherited neurodegenerative disorder 53 syringomyelia 53 incurable neurodegenerative disease 53 chromosomal translocations 53 optic nerve hypoplasia 53 SLC#A# gene [001] 53 klotho 53 Krabbe Disease 53 prosopagnosia 53 PALB2 53 MEF2A 53 epidermolysis bullosa 53 protein encoded 53 Prader Willi syndrome 53 endocrine disorder 53 NKX2 53 nonhereditary 53 chromosomal instability 53 CNTNAP2 53 brain lesions 53 germline mutation 53 Mitochondrial diseases 53 biochemical signaling pathway 53 Cyclin D1 53 WAGR syndrome 53 protein fragment 53 Alport syndrome 53 hereditary diseases 53 TSLP 53 Usher Syndrome 53 hereditary spastic paraplegia 53 Myocarditis 53 hyperparathyroidism 53 neural tube 53 SMN1 gene 53 Von Willebrand disease 53 Goldenhar syndrome 53 homozygosity 53 Brugada syndrome 53 BARD1 53 Treacher Collins syndrome 53 autoimmune disease 53 progranulin protein 53 Pten 53 myopathies 53 sortilin 53 HLA genes 53 medulloblastoma 53 chromosomal aberrations 53 CFTR protein 52 huntingtin 52 DICER1 52 misfolded 52 Wnt pathway 52 Crouzon syndrome 52 PTEN mutations 52 HbF 52 Notch signaling 52 ectopic expression 52 MC1R 52 autosomal recessive disorder 52 Severe Combined Immunodeficiency 52 polycystic ovary syndrome PCOS 52 skeletal muscle cells 52 long QT syndrome 52 Wiskott Aldrich Syndrome 52 matriptase 52 EZH2 52 situs inversus 52 HNPCC 52 breast cancer metastasis 52 von Willebrand disease 52 Sonic Hedgehog 52 NKT cells 52 epigenetic inheritance 52 autoimmune disorder 52 congenital cataract 52 nutritional deficiency 52 huntingtin protein 52 cerebri 52 RDEB 52 tau proteins 52 auditory neuropathy 52 PTPN# 52 Cholangiocarcinoma 52 Leber Congenital Amaurosis LCA 52 abnormal prions 52 CIB1 52 Cystic fibrosis CF 52 familial adenomatous polyposis FAP 52 immunodeficiency disorder 52 mammary cells 52 progranulin gene 52 BRIP1 52 neural crest 52 mitochondrial disorders 52 narcolepsy cataplexy 52 periodontal infection 52 glutamate signaling 52 metabolic abnormalities 52 Wilms tumor 52 JAK2 mutation 52 G#S [002] 52 myotonia 52 microcephalin 52 MIF gene 52 Foxp3 52 heritable 52 clotting disorder 52 transplanted bone marrow 52 epigenetically 52 variable immunodeficiency 52 Duchenne muscular dystrophy 52 multisystem disorder 52 chitinase 52 alpha synuclein gene 52 Pompe Disease 52 glial cells 52 genetic 52 epigenetic silencing 52 precocious puberty 52 congenital abnormalities 52 lysosomal storage diseases 52 Akt1 52 abnormal chromosome 52 MIF protein 52 spinal muscle atrophy 52 congenital deformity 52 interferon pathway 52 eosinophilic 52 myelination 52 GABAergic neurons 52 kisspeptin 52 HLA B# 52 pituitary adenoma 52 signaling molecule 52 germline mutations 52 genotoxic stress 52 genetic susceptibility 52 Cowden syndrome 52 Parkinson disease neurodegenerative disorder 52 osteopetrosis 52 C EBP alpha 52 Pdx1 52 C#Y 52 defective cilia 52 Genetic mutations 52 INF2 52 connexin 52 Pulmonary hypertension 52 Vitamin B# deficiency 52 Genetic predisposition 52 polycystic ovary syndrome 52 DiGeorge syndrome rare 52 desmin 52 medulloblastoma tumors 52 metachromatic leukodystrophy 52 paraneoplastic 52 abnormal proteins 52 regulates gene expression 52 neuronal stem cells 52 malignant transformation 52 skeletal muscle actin 52 primordial germ cells 52 parathyroid gland 52 Autoimmune disorders 52 ZNF# 52 fatty liver 52 hormonal disorder 52 JAK mutations 52 neuronal degeneration 52 V Leiden 52 neurologic disorder 52 leaky gut 52 mitochondria 52 atherosclerotic lesions 52 Mendelian diseases 52 autoinflammatory diseases 52 cystic fibrosis transmembrane conductance 52 motor neuron diseases 52 synaptic function 52 CaMKII 52 transcriptional repression 52 Anencephaly 52 Hemochromatosis 52 chronic autoimmune disorder 52 Down syndrome chromosomal disorder 52 DISC1 gene 52 mitochondrial disorder 52 SCN9A gene 52 Lesch Nyhan syndrome 52 Hypothyroidism 52 ferroportin 51 Maroteaux Lamy Syndrome 51 Usher syndrome 51 hypoplasia 51 haemochromatosis 51 congenital diaphragmatic hernia 51 primary cilia 51 Joubert Syndrome 51 G6PD deficiency 51 apolipoprotein E gene 51 myostatin 51 fatal neurodegenerative disorder 51 JAK2 gene 51 Prion proteins 51 intractable epilepsy 51 disease familial dysautonomia 51 idiopathic epilepsy 51 Math1 51 Dwarfism 51 thyroiditis 51 FOXP2 gene 51 sickle hemoglobin 51 aldehyde dehydrogenase 51 CHARGE syndrome 51 HLA B# gene 51 esophageal atresia 51 thyroid deficiency 51 herpesviruses 51 Wiskott Aldrich syndrome 51 GAB2 51 trisomy 51 imperfecta 51 stathmin 51 MCADD 51 IKZF1 51 BRCA1 mutations 51 multidrug resistance 51 Hypertrophic cardiomyopathy 51 incurable neurological disorder 51 degenerative disease 51 Dysplasia 51 FASPS 51 hypertrophy 51 calcium deficiency 51 FMR1 51 aY chromosome 51 Arrhythmogenic Right Ventricular Cardiomyopathy 51 SHANK3 51 Beckwith Wiedemann Syndrome 51 naturally occurring enzyme 51 FANCD2 51 spinal muscular atrophy 51 persistent pulmonary hypertension 51 Kabuki syndrome 51 retinoblastoma Rb 51 p# mutations 51 GFP gene 51 congenital hypothyroidism 51 folic acid deficiency 51 transfusion syndrome 51 systemic amyloidosis 51 biochemical imbalance 51 epigenetic 51 Long QT Syndrome 51 Crouzon Syndrome 51 GRK5 51 craniofacial defects 51 palmitoylation 51 granule cells 51 pernicious anemia 51 Epstein Barr virus 51 congenital brain tumor 51 Sox9 51 involuntary tics 51 Retinoblastoma 51 chromosomal 51 endocrine tumors 51 genomic variants 51 truncus arteriosus 51 undiagnosed celiac disease 51 SORL1 gene 51 protein tau 51 deformity 51 SCN5A 51 autoimmune thyroiditis 51 epigenetic modification 51 enzyme lactase 51 endostatin 51 TACI 51 gene locus 51 amyloid deposits 51 Pelizaeus Merzbacher disease 51 Tetralogy 51 Hyperthyroidism 51 protein kinase C 51 neurodevelopment disorder 51 FSGS 51 congenital defect 51 DISC1 51 micro RNAs 51 polyomavirus nephropathy 51 Neurofibromatosis type 51 misfolded protein 51 primary sclerosing cholangitis 51 LRRK2 mutations 51 ARVD 51 fibrous dysplasia 51 Smith Lemli Opitz 51 diabetes insipidus 51 insulin resistance 51 homozygous FH 51 normal prion protein 51 Niemann Pick 51 primary biliary cirrhosis 51 SLC#A# [002] 51 galanin 51 Neuregulin 1 51 Colorectal cancers 51 MTHFR 51 autosomal recessive genetic 51 SOX3 gene 51 recessive dystrophic epidermolysis bullosa 51 Wnt proteins 51 Retinopathy 51 retinoic acid 51 progeria 51 hemolytic anemia 51 mammalian embryos 51 multisystem disease 51 mucins 51 Myasthenia gravis 51 neuro developmental disorder 51 penetrance 51 lymphocyte activation 51 molecular pathways 51 SOD2 gene 51 tumor suppressor p# 51 laforin 51 piRNAs 51 IUGR 51 MC4R gene 51 ambiguous genitalia 51 monozygotic twin 51 neurodevelopmental disorders 51 leptin receptors 51 prion protein PrP 51 congenital anomalies 51 CYP#E# gene 51 transthyretin 51 kinase gene 51 inherited neurodegenerative 51 SRY gene 51 amyloid proteins 51 histiocytosis 51 BCR ABL protein 51 neuroblastoma tumor 51 luminal cells 51 AAT Deficiency 51 MTHFR gene 51 Rubinstein Taybi syndrome 51 ABCA1 51 aciduria 51 Hypoplastic Left Heart 51 leukodystrophy 51 Epstein Barr virus EBV 51 Nf1 51 collagen VII 51 hardened arteries 50 Wnt signaling pathway 50 TMEM#B 50 Polycystic kidney disease 50 EBV infection 50 Htt 50 Insulin resistance 50 mutant alleles 50 SGK1 50 sacral agenesis 50 neurofibroma 50 BH4 deficiency 50 apoC III 50 epigenetic mechanisms 50 KLF# 50 Cryptococcus neoformans 50 proNGF 50 disorder thalassemia 50 familial dysautonomia 50 amyloid cascade 50 alpha synuclein 50 neurological degeneration 50 Osr2 50 Marfan 50 metabolic abnormality 50 susceptibility genes 50 Smad3 50 lymphatic vasculature 50 rhabdomyosarcoma 50 iron overload 50 fatty acid synthesis 50 prion proteins 50 giant danio 50 kalirin 50 G6PD 50 fat malabsorption 50 NF κB activation 50 Vpu 50 undergo apoptosis 50 Fragile X. 50 Hip dysplasia 50 mutant allele 50 idiopathic 50 Mitochondrial 50 LRRK2 50 metabolic enzymes 50 bicuspid valve 50 parainfluenza virus 50 IL#R 50 BCL#A 50 premature ovarian 50 JAK2 enzyme 50 fatal myelination disorder 50 proto oncogene 50 folate metabolism 50 telomere maintenance 50 Prox1 50 pancreases 50 Oxidative stress 50 DNA methylation patterns 50 neuroblastoma tumors 50 KCNE2 50 ataxias 50 lysosomal diseases 50 chromosomal translocation 50 mental retardation epilepsy 50 KRAS oncogene 50 KCNQ1 50 microcephaly 50 progressive retinal degenerative 50 dysautonomia 50 neuroligins 50 chromatin structure 50 NPHP 50 tumor suppressor genes 50 Klotho gene 50 Leber Congenital Amaurosis 50 frameshift mutation 50 pituitary hormone 50 NOD2 50 follistatin 50 Cushing syndrome 50 CaM kinase II 50 telomere DNA 50 TEL AML1 50 neurofibromatosis 50 protein p# 50 mastocytosis 50 IDH mutations 50 chromosome deletion 50 retinitis pigmentosa RP 50 tRNAs 50 trypanosome 50 tricuspid atresia 50 recurrent infections 50 Ets2 50 TGFBR1 * 6A 50 beta1 integrin 50 FTO gene 50 mutated BRCA1 50 dysregulated 50 PDGFR 50 adrenoleukodystrophy ALD 50 frontotemporal dementia 50 shortened telomeres 50 developmental disorder 50 oncogene 50 pilocytic astrocytomas 50 demethylation 50 behavioral abnormalities 50 nestin 50 Long QT syndrome 50 basal cell nevus syndrome 50 neurobiological disorder 50 genetic variants 50 tumor suppressor 50 Helicobacter 50 allergic inflammation 50 autosomal dominant polycystic kidney 50 thyroid hormone 50 Holoprosencephaly 50 twin transfusion 50 neuron degeneration 50 Li Fraumeni 50 endothelial dysfunction 50 hypogonadotropic hypogonadism 50 insulin signaling pathway 50 TSC1 50 granulosa cell 50 GBM tumors 50 beta globin 50 hypertrichosis 50 genetic makeup 50 polycystic kidney disease 50 KIBRA 50 Tay Sachs 50 lactose malabsorption 50 dystrophies 50 pulmonary stenosis 50 ectoderm 50 primary ciliary dyskinesia 50 chromosome 50 hypothalamic hamartoma 50 CRTAP 50 homozygous 50 BRCA2 breast cancer 50 progressive neurological disorder 50 paralytic illness 50 enzyme 50 Prion diseases 50 signaling pathway 50 dysregulation 50 polydactyly 50 thymosin 50 histone modification 50 Tuberous sclerosis 50 tuberous sclerosis complex 50 receptor gene 50 TCF4 50 neurocysticercosis 50 Dpp 50 amyloid plaque 50 pRb 50 Rh factor 50 leukaemic stem cells 50 gene encoding 50 neuroinflammation 50 polymorphic ventricular tachycardia 50 neural crest cells 50 regulated kinase ERK 50 retinal dystrophy 50 TGF β 50 Iron deficiency anemia 50 embryonal rhabdomyosarcoma 50 SCN9A 50 FOXP2 50 FSHD 50 autoantibodies 50 Epstein Barr 50 transcriptional repressor 50 polycystic ovarian syndrome PCOS 50 thyroid hormone deficiency 50 Aortic dissection 50 SIRT3 50 thymus gland 50 FMRP 50 Pompe disease rare 50 cardiolipin 50 Smith Lemli Opitz syndrome 50 heterozygous 50 ADDLs 50 Sjögren syndrome 50 chromosomal alterations 50 Chiari malformation 50 protein 50 pancreatic tissue 50 dopamine signaling 50 Skp2 50 primary ovarian insufficiency 50 herpes infection 50 malignant tumors 50 tumors 50 LDL receptor 50 pathogenic mutations 50 amyloidosis 50 Plasmodium parasites 50 Menkes disease 50 c myc 50 progeria rare 50 mammary cancers 50 activin 50 PrP 50 protein dystrophin 50 H#K# methylation 50 TCF#L# gene 50 sCJD 50 Obsessive compulsive disorder 50 Proteus Syndrome 50 imprinted genes 50 genetically engineered mice 50 beta amyloid plaques 50 anaplastic lymphoma kinase 50 obliterative bronchiolitis 50 prion infection 50 phenotypic variation 50 necrotising 49 fatty acid synthase 49 CETP gene 49 autoimmune encephalitis 49 alleles 49 telomere dysfunction 49 CALHM1 49 male infertility 49 MeCP2 protein 49 adrenal gland 49 neurofibrillary 49 glomerulonephritis 49 debilitating neurodegenerative disorder 49 autism neurological disorder 49 atresia 49 MLL2 49 Genetic variation 49 genetically engineered mouse 49 endogenous retroviruses 49 IKK2 49 ependymoma 49 Eisenmenger syndrome 49 GBA mutations 49 Maroteaux Lamy syndrome 49 Apert Syndrome 49 zebrafish embryo 49 endocannabinoids 49 Medulloblastoma 49 chromosomal deletions 49 chimeric mice 49 aniridia 49 biochemical pathways 49 divide uncontrollably