Predicting deleterious amino acid substitutions (scientific article)

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Q34461149	Coordinated regulatory variation associated with gestational hyperglycaemia regulates expression of the novel hexokinase HKDC1
Q34452275	Copy number and targeted mutational analysis reveals novel somatic events in metastatic prostate tumors
Q57848670	Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients
Q35640566	Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes
Q22242851	Crohn's disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation
Q37106378	Current perspectives in zebrafish reverse genetics: moving forward
Q37165610	Cytokine and cytokine receptor single-nucleotide polymorphisms predict risk for non-small cell lung cancer among women
Q45955307	DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.
Q58547944	DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study
Q30410672	DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma
Q47561732	DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma
Q51553614	DNA replication timing and selection shape the landscape of nucleotide variation in cancer genomes.
Q38492637	DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy
Q35433303	Databases and bioinformatics tools for the study of DNA repair
Q37195042	Databases of genomic variation and phenotypes: existing resources and future needs
Q89462013	De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
Q41930441	De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy
Q30371477	De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Q52332120	DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants.
Q36273095	Decay of Sexual Trait Genes in an Asexual Parasitoid Wasp
Q39514878	Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Q38265995	Deciphering oncogenic drivers: from single genes to integrated pathways
Q34734269	Deciphering the growth behaviour of Mycobacterium africanum
Q41908295	Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation
Q28288463	Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
Q28481601	Deleterious GRM1 mutations in schizophrenia
Q36131243	Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population
Q51717038	Deleterious amino acid polymorphisms in Arabidopsis thaliana and rice.
Q40240924	Deleterious mutation prediction in the secondary structure of RNAs
Q37114663	Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus
Q33374161	Detecting the effects of selection at the population level in six bovine immune genes
Q52579509	Detection of functional protein domains by unbiased genome-wide forward genetic screening.
Q43465188	Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.
Q30904608	Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data
Q37009616	Development and characterization of a spring hexaploid wheat line with no functional VRN2 genes
Q34560891	Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy
Q51062318	Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
Q46349926	Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family
Q36695157	Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
Q38667246	Differentially Regulated Orthologs in Sorghum and the Subgenomes of Maize.
Q36833519	Diffuse hypomyelination is not obligate for POLR3-related disorders
Q36106256	Discovery of Genetic Variants of the Kinases That Activate Tenofovir in a Compartment-specific Manner.
Q52594148	Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067.
Q24800006	Discovery of induced point mutations in maize genes by TILLING
Q40060771	Discovery of mutations in homologous recombination genes in African-American women with breast cancer
Q38843404	Discovery of rare variants for complex phenotypes.
Q27025729	Disease mutations in disordered regions--exception to the rule?
Q30394373	Disease risk of missense mutations using structural inference from predicted function
Q33693717	Disease-associated mitochondrial mutations and the evolution of primate mitogenomes.
Q30422189	Disease-associated mutations disrupt functionally important regions of intrinsic protein disorder
Q34311130	Disease-related mutations among Caribbean Hispanics with familial dementia
Q34324927	Disease-related mutations predicted to impact protein function
Q37573604	Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.
Q46029715	Distribution analysis of nonsynonymous polymorphisms within the human kinase gene family.
Q36978562	Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population
Q29619825	Diverse somatic mutation patterns and pathway alterations in human cancers
Q35795006	Diversity and population structure of northern switchgrass as revealed through exome capture sequencing
Q24337521	Dominant-negative ALK2 allele associates with congenital heart defects
Q37661903	DriverDB: an exome sequencing database for cancer driver gene identification.
Q37346692	Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
Q64085219	Duplication in the Gene Associated With Severe CHARGE Syndrome
Q43727404	Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].
Q33770599	EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome
Q38218836	EZH2: an emerging role in melanoma biology and strategies for targeted therapy.
Q41317700	Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report
Q44125143	Effect of a novel mutation in a Δ9-stearoyl-ACP-desaturase on soybean seed oil composition
Q35946338	Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
Q33739535	Effect of rare variants in ADRB2 on risk of severe exacerbations and symptom control during longacting β agonist treatment in a multiethnic asthma population: a genetic study
Q37424345	Effects of Twelve Germline Missense Variations on DNA Lesion and G-Quadruplex Bypass Activities of Human DNA Polymerase REV1.
Q37318048	Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.
Q39686165	Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia
Q37296773	Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients
Q90482568	Emerging strategies to bridge the gap between pharmacogenomic research and its clinical implementation
Q36222349	Enhanced Visualization of Subtle Outer Retinal Pathology by En Face Optical Coherence Tomography and Correlation with Multi-Modal Imaging
Q42906347	Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus
Q39025220	Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia.
Q90614437	Ethnogeographic and inter-individual variability of human ABC transporters
Q40238343	Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians
Q34324956	Evaluating our ability to predict the structural disruption of RNA by SNPs
Q50050350	Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Q39864884	Evaluating the impact of missenses mutations in CYP2D67 and CYP2D614A: does it compromise tamoxifen metabolism?
Q37321850	Evaluation and identification of damaged single nucleotide polymorphisms in COL1A1 gene involved in osteoporosis.
Q21260419	Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition
Q47878881	Evaluation of a Role for NPY and NPY2R in the Pathogenesis of Obesity by Mutation and Copy Number Variation Analysis in Obese Children and Adolescents
Q34554349	Evaluation of germline BMP4 mutation as a cause of colorectal cancer
Q56505678	Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children
Q52032041	Evaluation of structural and evolutionary contributions to deleterious mutation prediction.
Q64077647	Evolution of a novel chimeric maltotriose transporter in Saccharomyces eubayanus from parent proteins unable to perform this function
Q37094030	Evolution of the human gastrokine locus and confounding factors regarding the pseudogenicity of GKN3
Q30359590	Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2)
Q51099642	Evolutionarily conserved and conformationally constrained short peptides might serve as DNA recognition elements in intrinsically disordered regions.
Q35043079	Evolutionary Diagnosis of non-synonymous variants involved in differential drug response
Q92108067	Evolutionary Stability of Salt Bridges Hints Its Contribution to Stability of Proteins
Q35225651	Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome
Q36830862	Evolutionary balancing is critical for correctly forecasting disease-associated amino acid variants
Q24675093	Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1
Q34455388	Evolutionary pattern in the OXT-OXTR system in primates: coevolution and positive selection footprints
Q33369619	Exhaustive prediction of disease susceptibility to coding base changes in the human genome
Q36857893	Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease
Q37099823	Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
Q34219041	Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus
Q38869559	Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.
Q34778685	Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease
Q91892352	Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism
Q34426529	Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles
Q33765236	Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
Q35073865	Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia
Q46340410	Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
Q34943410	Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.
Q34474029	Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences
Q34055794	Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
Q35084390	Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
Q90444265	Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly
Q37929197	Expanding DNA diagnostic panel testing: is more better?
Q22066287	Experimental selection of hypoxia-tolerant Drosophila melanogaster
Q36668822	Exploring functional variant discovery in non-coding regions with SInBaD.
Q53202519	Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
Q89026350	Exploring the selective vulnerability in Alzheimer disease using tissue specific variant analysis
Q35837640	Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
Q42993060	Exploring the structural and functional effect of pRB by significant nsSNP in the coding region of RB1 gene causing retinoblastoma
Q64108695	Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations
Q52621809	Expression analysis of MLH3, MLH1, and MSH4 in maturation arrest.
Q39708458	Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
Q37053442	Extrapolating the effect of deleterious nsSNPs in the binding adaptability of flavopiridol with CDK7 protein: a molecular dynamics approach
Q30365639	F-SNP: computationally predicted functional SNPs for disease association studies
Q37252063	FOXL2 mutations and genomic rearrangements in BPES.
Q30882617	False discovery rates for rare variants from sequenced data
Q57284117	Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
Q36116425	Fbxw7 regulates Notch to control specification of neural precursors for oligodendrocyte fate
Q51131904	Feature-based classification of amino acid substitutions outside conserved functional protein domains.
Q33851583	Feature-based multiple models improve classification of mutation-induced stability changes
Q34331124	Finding and interpreting genetic variations that are important to ophthalmologists
Q92342064	Fine mapping of genomic regions associated with female fertility in Nellore beef cattle based on sequence variants from segregating sires
Q37367209	Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36.
Q33784939	Fine mapping reveals that promotion susceptibility locus 1 (Psl1) is a compound locus with multiple genes that modify susceptibility to skin tumor development
Q34975896	Fine mapping the KLK3 locus on chromosome 19q13.33 associated with prostate cancer susceptibility and PSA levels
Q42547382	First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis
Q30406816	First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs
Q33405757	Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom1R Apc Min/+ mice
Q48069270	Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Q92516287	Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil
Q35907666	Frequent variations in cancer-related genes may play prognostic role in treatment of patients with chronic myeloid leukemia.
Q47707268	Full-gene haplotypes refine CYP2D6 metabolizer phenotype inferences
Q36664987	Full-length nucleotide sequences of 30 common SLC44A2 alleles encoding human neutrophil antigen-3.
Q34399466	FunSAV: predicting the functional effect of single amino acid variants using a two-stage random forest model
Q38809759	Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population
Q44745182	Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families
Q42428364	Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population
Q48261472	Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
Q38978320	Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL.
Q30437897	Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk
Q38637888	Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
Q92239198	Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system
Q56232628	Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures
Q28472311	Functional characterization of variations on regulatory motifs
Q33695836	Functional classification of proteins and protein variants.
Q37681140	Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism
Q30416471	Functional genomics based prioritization of potential nsSNPs in EPHX1, GSTT1, GSTM1 and GSTP1 genes for breast cancer susceptibility studies
Q34338845	Functional genomics of membrane transporters in human populations
Q28469139	Functional impact of missense variants in BRCA1 predicted by supervised learning
Q52998299	Functional impacts of non-synonymous single nucleotide polymorphisms: selective constraint and structural environments.
Q37086760	Functional modules, mutational load and human genetic disease
Q38932044	Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis
Q57761597	Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Q47109359	GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy
Q48138078	GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability
Q54454396	GATA4 mutations in Chinese patients with congenital cardiac septal defects.
Q37120985	GATA4 sequence variants in patients with congenital heart disease
Q37230697	GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Q48205045	GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant
Q37725110	GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families
Q36243048	GTB - an online genome tolerance browser
Q58605379	Gene Screening and Association of Variants With Gestational Diabetes in North Indian Population
Q34708964	Gene-based single nucleotide polymorphism discovery in bovine muscle using next-generation transcriptomic sequencing.
Q37363564	Gene-diet-interactions in folate-mediated one-carbon metabolism modify colon cancer risk
Q28080461	GeneMed: An Informatics Hub for the Coordination of Next-Generation Sequencing Studies that Support Precision Oncology Clinical Trials
Q26866422	Genes and podocytes - new insights into mechanisms of podocytopathy
Q44233525	Genes involved in the regulation of intestinal permeability and their role in ulcerative colitis
Q49888809	Genetic Variation of the Kinases that Phosphorylate Tenofovir and Emtricitabine in Peripheral Blood Mononuclear Cells.
Q29615301	Genetic adaptation by Pseudomonas aeruginosa to the airways of cystic fibrosis patients
Q28533870	Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS)
Q34376041	Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene
Q35118489	Genetic analysis of membrane cofactor protein (CD46) of the complement system in women with and without preeclamptic pregnancies
Q34822832	Genetic and clinical analysis of ABCA4-associated disease in African American patients
Q37314640	Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
Q50584396	Genetic and structural variation in the SH2B1 gene in the Belgian population.
Q37035434	Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing
Q37118371	Genetic architecture of transcript-level variation in humans
Q36697556	Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping
Q38311787	Genetic basis of interindividual susceptibility to cancer cachexia: selection of potential candidate gene polymorphisms for association studies
Q42181203	Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing
Q30355169	Genetic diversity and function in the human cytosolic sulfotransferases.
Q46831449	Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family
Q35927816	Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene
Q24682265	Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada
Q22305005	Genetic studies of body mass index yield new insights for obesity biology
Q96023018	Genetic testing strategies in the newborn
Q53277819	Genetic variability in IL23R and risk of colorectal adenoma and colorectal cancer.
Q35265653	Genetic variants in cytosolic 5'-nucleotidase II are associated with its expression and cytarabine sensitivity in HapMap cell lines and in patients with acute myeloid leukemia.
Q35812542	Genetic variation and exposure related risk estimation: will toxicology enter a new era? DNA repair and cancer as a paradigm
Q53218077	Genetic variation in ALCAM and other chromosomal instability genes in breast cancer survival.
Q41014525	Genetic variation in coding regions between and within commonly used inbred rat strains
Q43573965	Genetic variation in genes encoding for polymerase ζ subunits associates with breast cancer risk, tumour characteristics and survival
Q28655798	Genetic variation of the whole ICAM4 gene in Caucasians and African Americans
Q92198327	Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
Q30363515	Genome bioinformatic analysis of nonsynonymous SNPs
Q33383215	Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins
Q92284269	Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema
Q24635872	Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes
Q33608837	Genome-wide association studies--data generation, storage, interpretation, and bioinformatics.
Q34948004	Genome-wide association study identifies a novel canine glaucoma locus
Q64053916	Genome-wide association study of suicide attempt in a Mexican population: a study protocol
Q37165678	Genome-wide characteristics of de novo mutations in autism
Q59127041	Genome-wide discovery of DNA polymorphisms among chickpea cultivars with contrasting seed size/weight and their functional relevance
Q33241997	Genome-wide isolation of growth and obesity QTL using mouse speed congenic strains
Q36748126	Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults
Q35642209	Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD.
Q36802961	Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis
Q63753432	Genomic alterations accompanying tumour evolution in colorectal cancer: tracking the differences between primary tumours and synchronous liver metastases by whole-exome sequencing
Q36155142	Genomic alterations in BCL2L1 and DLC1 contribute to drug sensitivity in gastric cancer
Q92320936	Genomic insights on heterogeneous resistance to vancomycin and teicoplanin in Methicillin-resistant Staphylococcus aureus: A first report from South India
Q51139774	Genomic signatures of adaptation to wine biological ageing conditions in biofilm-forming flor yeasts.
Q28079279	Genomics advances the study of inbreeding depression in the wild
Q35388414	Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
Q47182839	Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Q52148968	Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Q92326255	Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling
Q39846036	Genotype-phenotype correlations in MYCN-related Feingold syndrome
Q40281315	Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent
Q35735103	Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry
Q55395329	Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.
Q41854090	Germline fitness-based scoring of cancer mutations
Q34393793	Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Q44394416	Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome
Q37470280	Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil
Q28245028	Germline mutations in RAD51D confer susceptibility to ovarian cancer
Q35764341	Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Q57319788	Germline mutations inRAD51,RAD51AP1,RAD51B,RAD51C,RAD51D,RAD52andRAD54Ldo not contribute to familial chronic lymphocytic leukemia
Q52661622	Global analysis of A-to-I RNA editing reveals association with common disease variants.
Q34575710	Global and disease-associated genetic variation in the human Fanconi anemia gene family
Q38731965	Global genetic variation of select opiate metabolism genes in self-reported healthy individuals
Q41773210	Global human frequencies of predicted nuclear pathogenic variants and the role played by protein hydrophobicity in pathogenicity potential
Q36796046	Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene
Q81430169	Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update
Q35106767	Growing recognition of the role for rare missense substitutions in breast cancer susceptibility
Q46228832	HAB1-SWI3B interaction reveals a link between abscisic acid signaling and putative SWI/SNF chromatin-remodeling complexes in Arabidopsis
Q35827746	HMMvar-func: a new method for predicting the functional outcome of genetic variants
Q28817973	HOMCOS: an updated server to search and model complex 3D structures
Q35822099	HPMV: human protein mutation viewer - relating sequence mutations to protein sequence architecture and function changes
Q40542581	HSV-1 clinical isolates with unique in vivo and in vitro phenotypes and insight into genomic differences
Q51506501	Hansa: an automated method for discriminating disease and neutral human nsSNPs.
Q29614906	HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
Q53582808	Haplotypic variation in MRE11, RAD50 and NBS1 and risk of non-Hodgkin's lymphoma.
Q52407082	Harvey Cushing Treated the First Known Patient With Carney Complex.
Q36739854	Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: a new unstable α chain hemoglobin variant associated with low systemic arterial saturation
Q43169543	Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Q28118506	Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
Q35066584	Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family
Q36522616	Heuristic methods for finding pathogenic variants in gene coding sequences
Q34560899	Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
Q34462242	Hierarchical modeling for estimating relative risks of rare genetic variants: properties of the pseudo-likelihood method
Q89398119	Hierarchical modeling of melanocortin 1 receptor variants with skin cancer risk
Q55057209	High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Q39141707	High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine.
Q52625431	High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.
Q90609298	High-throughput DNA Sequencing Identifies Novel CtIP (RBBP8) Variants in Muscle-invasive Bladder Cancer Patients
Q28730279	High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism
Q35581537	Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
Q35574939	Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies
Q30388182	Human allelic variation: perspective from protein function, structure, and evolution
Q35747291	Human genetics of plasma dopamine beta-hydroxylase activity: applications to research in psychiatry and neurology
Q29547603	Human non-synonymous SNPs: server and survey
Q36316169	Hypermethylation of the 5' CpG island of the p14ARF flanking exon 1β in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression
Q44642650	ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis
Q37096891	IL-10R polymorphisms are associated with very-early-onset ulcerative colitis
Q42292082	IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants
Q34177518	Identification and analysis of driver missense mutations using rotation forest with feature selection.
Q38830136	Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.
Q50965737	Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Q38860108	Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy
Q35154668	Identification and characterization of transcript polymorphisms in soybean lines varying in oil composition and content
Q34228428	Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia
Q50927455	Identification and in silico analysis of functional SNPs of the BRCA1 gene.
Q39429427	Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations
Q40046884	Identification of ASAH1 as a susceptibility gene for familial keloids
Q89900020	Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene
Q37261177	Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens
Q35952184	Identification of Dw1, a Regulator of Sorghum Stem Internode Length
Q24530823	Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
Q58768285	Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size
Q36686765	Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis
Q35855122	Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients
Q48085900	Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle
Q40985645	Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Q33405386	Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing
Q30422148	Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.
Q37363175	Identification of deleterious mutations within three human genomes
Q33347624	Identification of deleterious non-synonymous single nucleotide polymorphisms using sequence-derived information
Q36839486	Identification of four new susceptibility loci for testicular germ cell tumour
Q30413621	Identification of functional genetic variation in exome sequence analysis
Q57848778	Identification of mutations in the NUCB2/nesfatin gene in children with severe obesity
Q50307278	Identification of novel genetic causes of Rett syndrome-like phenotypes.
Q59792982	Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
Q33770662	Identification of potentially damaging amino acid substitutions leading to human male infertility
Q41012287	Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients
Q52590989	Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Q37381091	Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2.
Q89026352	Identification of six novel susceptibility loci for dyslipidemia using longitudinal exome-wide association studies in a Japanese population
Q37038258	Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.
Q64226690	Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing
Q46889802	Identification of the putative ancestral allele of bovine single-nucleotide polymorphisms
Q34705103	Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy
Q43713356	Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism
Q28115791	Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype
Q34521677	Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation
Q42364951	Identifying mutations in Tunisian families with retinal dystrophy
Q38361348	Identifying the biological basis of GWAS hits for endometriosis.
Q35124261	Imaging-based diagnosis of autosomal dominant polycystic kidney disease
Q37266366	Impact of exome sequencing in inflammatory bowel disease
Q30491136	Impact of genetic variation on three dimensional structure and function of proteins
Q39650635	Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants
Q44443107	Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length
Q35596819	Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
Q41189990	Improved feature-based prediction of SNPs in human cytochrome P450 enzymes.
Q34768428	Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.
Q30408049	Improving the prediction of disease-related variants using protein three-dimensional structure
Q39317608	In Silico Prediction of Deleteriousness for Nonsynonymous and Splice-Altering Single Nucleotide Variants in the Human Genome
Q41100668	In silico analyses of missense mutations in coagulation factor VIII: identification of severity determinants of haemophilia A.
Q36200498	In silico analysis of missense substitutions using sequence-alignment based methods
Q34879322	In silico analysis of single nucleotide polymorphism (SNP) in human TNF-α gene
Q28477547	In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene
Q55223795	In silico analysis of single nucleotide polymorphisms (SNPs) in human FOXC2 gene.
Q30583473	In silico comparative characterization of pharmacogenomic missense variants
Q33666205	In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools
Q37223721	In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs)
Q30414362	In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.
Q35175491	In silico screening, genotyping, molecular dynamics simulation and activity studies of SNPs in pyruvate kinase M2
Q92136218	Inactivation of LACCASE8 and LACCASE5 genes in Brachypodium distachyon leads to severe decrease in lignin content and high increase in saccharification yield without impacting plant integrity
Q90195731	Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans
Q35751267	Incorporating molecular and functional context into the analysis and prioritization of human variants associated with cancer
Q59667688	Increased exonic de novo mutation rate in individuals with schizophrenia
Q35527147	Increased expression of MERTK is associated with a unique form of canine retinopathy
Q33483027	Independent inactivation of arginine decarboxylase genes by nonsense and missense mutations led to pseudogene formation in Chlamydia trachomatis serovar L2 and D strains
Q34468857	Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
Q36106337	Inferring Crohn's disease association from exome sequences by integrating biological knowledge
Q38044611	Inferring causality and functional significance of human coding DNA variants
Q44070084	Inferring the functional effects of mutation through clusters of mutations in homologous proteins
Q102220241	Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Q34086434	Inflated type I error rates when using aggregation methods to analyze rare variants in the 1000 Genomes Project exon sequencing data in unrelated individuals: summary results from Group 7 at Genetic Analysis Workshop 17.
Q34211860	Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families
Q91593468	Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
Q34431404	Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
Q30421800	Insight into TPMT(∗)23 mutation mis-folding using molecular dynamics simulation and protein structure analysis
Q27852856	Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma
Q47343843	Integrating expression-related SNPs into genome-wide gene- and pathway-based analyses identified novel lung cancer susceptibility genes.
Q30996686	Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood
Q35152210	Integration of QTL and bioinformatic tools to identify candidate genes for triglycerides in mice
Q39134022	Inter-ethnic differences in genetic polymorphisms of xenobiotic-metabolizing enzymes (CYP1A1, CYP2D6, NAT1 and NAT2) in healthy populations: correlation with the functional in silico prediction.
Q36427195	Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T
Q30422192	Interpretation of the consequences of mutations in protein kinases: combined use of bioinformatics and text mining
Q38614473	Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment
Q30360539	Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
Q37002040	Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients
Q35837625	Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains
Q34181867	Investigating the structural impacts of I64T and P311S mutations in APE1-DNA complex: a molecular dynamics approach
Q37314853	Investigation and prediction of the severity of p53 mutants using parameters from structural calculations
Q54649891	Investigation of common and rare genetic variation in the BAMBI genomic region in light of human obesity.
Q49369869	Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse.
Q30376403	Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.
Q37575689	Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit
Q33746898	Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen
Q88508698	Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4
Q33771570	KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
Q47888734	KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
Q41889886	KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
Q36064404	KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily
Q34044769	Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.
Q38841443	LADD syndrome with glaucoma is caused by a novel gene
Q37693494	Lack of Association of CD55 Receptor Genetic Variants and Severe Malaria in Ghanaian Children
Q28114922	Lanosterol reverses protein aggregation in cataracts
Q58531670	Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
Q34999257	Large-scale discovery of induced point mutations with high-throughput TILLING.
Q96230819	Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
Q37626189	Large-scale mass spectrometric detection of variant peptides resulting from nonsynonymous nucleotide differences
Q35015836	Large-scale polymorphism discovery in macaque G-protein coupled receptors
Q54396826	Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene.
Q37241734	Lessons from postgenome-wide association studies: functional analysis of cancer predisposition loci
Q35965565	Leveraging protein quaternary structure to identify oncogenic driver mutations
Q59353949	Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
Q46184910	Link-N: The missing link towards intervertebral disc repair is species-specific
Q28647774	Loci associated with adult stature also affect calf birth survival in cattle
Q27303689	Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
Q42833836	Loss of function of Ifi202b by a microdeletion on chromosome 1 of C57BL/6J mice suppresses 11β-hydroxysteroid dehydrogenase type 1 expression and development of obesity
Q42927113	Loss of post-translational modification sites in disease
Q36740575	Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
Q35591520	MADGiC: a model-based approach for identifying driver genes in cancer
Q56894111	MANTA2, update of the Mongo database for the analysis of transcription factor binding site alterations
Q36628976	MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
Q29147487	MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
Q36840213	MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
Q51686812	MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer.
Q35184949	Majority vote and other problems when using computational tools
Q33846850	Making sense of cancer genomic data
Q36877395	Mammalian evolution and biomedicine: new views from phylogeny
Q30401951	Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)
Q47395777	Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function
Q34735308	Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome
Q36116190	Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.
Q101403171	Mapping the genetic basis of diabetes mellitus in the Australian Burmese cat (Felis catus)
Q45973584	Mapping the signal peptide binding and oligomer contact sites of the core subunit of the pea twin arginine protein translocase.
Q36651164	Matrix gla protein gene polymorphism is associated with increased coronary artery calcification progression
Q37366208	Measuring Accelerated Rates of Insertions and Deletions Independent of Rates of Nucleotide Substitution.
Q30400158	Meet me halfway: when genomics meets structural bioinformatics
Q34562487	Melanocortin-1 receptor structure and functional regulation.
Q58780424	Metastases risk in thin cutaneous melanoma: prognostic value of clinical-pathologic characteristics and mutation profile
Q49299774	Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.
Q24321570	Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors
Q33913522	Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse.
Q39348928	Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.
Q28219035	Mismatch repair polymorphisms and colorectal polyps: hMLH1-93G>A variant modifies risk associated with smoking
Q36611976	Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
Q36918711	Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers
Q38784023	Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges
Q47887703	Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females
Q90721499	Mitochondrial DNA Mutations and Rheumatic Heart Diseases
Q34839861	Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus
Q40419291	Mitochondrial genome diversity among six laboratory zebrafish (Danio rerio) strains
Q41931353	Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene
Q35924632	Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
Q36019953	Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.
Q90316567	Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling
Q90074570	Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants
Q36908948	Molecular characterization of CPS1 deletions by array CGH
Q36803695	Molecular characterization of Leber congenital amaurosis in Koreans.
Q43876991	Molecular characterization of the env gene from Brazilian field isolates of Bovine leukemia virus
Q43579949	Molecular cloning and tissue distribution of peroxisome proliferator-activated receptor-alpha (PPARα) and gamma (PPARγ) in the pigeon (Columba livia domestica).
Q46551396	Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations
Q30417775	Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing
Q44971469	Molecular docking and molecular dynamics study on the effect of ERCC1 deleterious polymorphisms in ERCC1-XPF heterodimer
Q34086505	Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
Q38163379	Molecular genetic epidemiology of human diseases: from patterns to predictions
Q48142018	Molecular heterogeneity in fetal forms of type II lissencephaly.
Q45897769	Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Q100960867	Monogenic variants in dystonia: an exome-wide sequencing study
Q35833449	Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
Q33269877	Mouse SNP Miner: an annotated database of mouse functional single nucleotide polymorphisms
Q47948775	Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock
Q28468693	Multidrug resistance-associated protein 1 (MRP1/ABCC1) polymorphism: from discovery to clinical application
Q40470383	Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.
Q39788012	Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects
Q61443427	Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease
Q35082960	Multiple co-evolutionary networks are supported by the common tertiary scaffold of the LacI/GalR proteins
Q34677821	Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes
Q41895778	Multiple property tolerance analysis for the evaluation of missense mutations
Q58802662	Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas
Q24812523	MutDB services: interactive structural analysis of mutation data
Q36454309	MutDB: update on development of tools for the biochemical analysis of genetic variation
Q35215197	MutaCYP: Classification of missense mutations in human cytochromes P450
Q33882882	Mutagenesis Objective Search and Selection Tool (MOSST): an algorithm to predict structure-function related mutations in proteins.
Q40261041	Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
Q37562767	Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates
Q33386708	Mutation analysis in primary immunodeficiency diseases: case studies
Q35069947	Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting
Q43982309	Mutation analysis of WNT10B in obese children, adolescents and adults
Q36944199	Mutation and methylation analysis of the chromodomain-helicase-DNA binding 5 gene in ovarian cancer
Q51340480	Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype.
Q41629507	Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia
Q28244149	Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease
Q44813215	Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.
Q36288221	Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome
Q90240483	Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
Q30351790	Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.
Q39735560	Mutational analysis of the herpes simplex virus type 1 UL25 DNA packaging protein reveals regions that are important after the viral DNA has been packaged
Q35087800	Mutational analysis of the major soybean UreF paralogue involved in urease activation
Q30354799	Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.
Q35926362	Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors
Q47896520	Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing
Q36892897	Mutational screening of Indian families with hereditary congenital cataract
Q58736452	Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic
Q51144915	Mutational screening of the NR5A1 in azoospermia.
Q36493296	Mutational spectrum of smith-lemli-opitz syndrome patients in hungary
Q34687498	Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States
Q35907284	Mutations in CIZ1 cause adult onset primary cervical dystonia
Q48106459	Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.
Q24625735	Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance
Q35989227	Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
Q37013268	Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
Q30444518	Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89
Q47969195	Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
Q36666925	Mutations in MED12 cause X-linked Ohdo syndrome
Q50660807	Mutations in SETD2 cause a novel overgrowth condition.
Q41975337	Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma
Q35956963	Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa
Q30397541	Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Q35234874	Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections
Q33960544	Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Q24317237	Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis
Q36637045	Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Q36562921	Mutations in the Kinetochore Gene KNSTRN in Basal Cell Carcinoma
Q21710714	Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome
Q21090211	Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog
Q21092244	Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy
Q24308692	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Q39761819	Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.
Q34280234	Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Q57883581	Mutations of the CHEK2 gene in patients with cancer and their presence in the Latin American population
Q29147451	Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability
Q28297943	Mutations within the FGF5 gene are associated with hair length in cats
Q33647442	Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy
Q30366556	NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples.
Q31052044	NGS meta data analysis for identification of SNP and INDEL patterns in human airway transcriptome: A preliminary indicator for lung cancer
Q87772869	NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings
Q40330789	NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described
Q41141616	NPHS2 Mutations: A Closer Look to Latin American Countries.
Q35792721	NPHS2 mutations account for only 15% of nephrotic syndrome cases.
Q34784526	Narrowing a region on rat chromosome 13 that protects against hypertension in Dahl SS-13BN congenic strains
Q35022362	Natural variation in human membrane transporter genes reveals evolutionary and functional constraints
Q33995474	Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
Q34099277	Neighborhood properties are important determinants of temperature sensitive mutations
Q36906056	Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome
Q46527792	Network-Based Identification of Adaptive Pathways in Evolved Ethanol-Tolerant Bacterial Populations.
Q36043147	Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy
Q38430972	Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Q41716719	New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report
Q28270700	New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Q61798296	New insights into the pathogenicity of non-synonymous variants through multi-level analysis
Q24630646	New loci associated with kidney function and chronic kidney disease
Q24298150	New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle
Q94458820	Next generation sequencing exome data analysis aids in the discovery of SNP and INDEL patterns in Parkinson's disease
Q55668666	Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
Q28755491	Next generation tools for the annotation of human SNPs
Q42961888	Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
Q36706644	Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2
Q35158517	Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects
Q42178386	Next-generation sequencing of salivary high-grade neuroendocrine carcinomas identifies alterations in RB1 and the mTOR pathway
Q47852371	Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
Q35799615	Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients
Q28538079	Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders
Q24301599	Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking
Q35549243	No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins
Q30415944	No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas
Q35027731	No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
Q44760609	No important role for genetic variation in the Chibby gene in monogenic and complex obesity
Q37452901	Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
Q21133812	Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin
Q35928623	Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects
Q55154064	Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Q35404772	Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
Q36231506	Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing
Q38864169	Novel EPHB4 Receptor Tyrosine Kinase Mutations and Kinomic Pathway Analysis in Lung Cancer
Q36901262	Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Q92447206	Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
Q28708927	Novel RS1 mutations associated with X-linked juvenile retinoschisis
Q55044692	Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome.
Q36015602	Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
Q36028359	Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
Q45074305	Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations
Q36870065	Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy
Q49838497	Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.
Q64269386	Novel genetic and epigenetic factors of importance for inter-individual differences in drug disposition, response and toxicity
Q28741002	Novel germline PALB2 truncating mutations in African American breast cancer patients
Q36422240	Novel insights from hybrid LacI/GalR proteins: family-wide functional attributes and biologically significant variation in transcription repression.
Q37260984	Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer
Q38890009	Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.
Q30372462	Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Q24301849	Novel missense MTTP gene mutations causing abetalipoproteinemia
Q38612299	Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?
Q33703814	Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
Q38322581	Novel mutations in calcium/calmodulin-dependent protein kinase IV (CAMK4) gene in infertile men.
Q35171073	Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
Q52659277	Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.
Q47866578	Novel oxytocin receptor variants in laboring women requiring high doses of oxytocin
Q89882615	Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases
Q24645968	Novel variants in human Aquaporin-4 reduce cellular water permeability
Q91785377	Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report
Q90297786	Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple CARD14 Variants
Q30557445	Nucleotide variation in IL-10 and IL-12 and their receptors and cervical and vulvar cancer risk: a hybrid case-parent triad and case-control study
Q51589491	Nucleotide variation of sFRP5 gene is not associated with obesity in children and adolescents.
Q34452283	Nucleotide variations in genes encoding plasminogen activator inhibitor-2 and serine proteinase inhibitor B10 associated with prostate cancer
Q38764158	Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests
Q34324083	Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years
Q59027379	On Classification of PDZ Domains: A Computational Study
Q38809535	One amino acid makes a difference-Characterization of a new TPMT allele and the influence of SAM on TPMT stability
Q38898567	OpenGeneMed: a portable, flexible and customizable informatics hub for the coordination of next-generation sequencing studies in support of precision medicine trials
Q35368205	Our changing view of the genomic landscape of cancer
Q29547480	PANTHER: a library of protein families and subfamilies indexed by function
Q35208095	PARSESNP: A tool for the analysis of nucleotide polymorphisms
Q33728184	PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features
Q28543185	PON-P2: prediction method for fast and reliable identification of harmful variants
Q39364474	PON-P: integrated predictor for pathogenicity of missense variants
Q35927145	PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
Q52704883	PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.
Q32884505	PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
Q39678360	PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders
Q90675867	Pan-Cancer Analysis Reveals the Functional Importance of Protein Lysine Modification in Cancer Development
Q50055834	Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene.
Q92524150	Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform
Q36084279	Parlez-vous VUS?
Q30375382	Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
Q37725916	Pathogenic variants in TUBB4A are not found in primary dystonia
Q37348461	Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario
Q58532128	Performance of mutation pathogenicity prediction methods on missense variants
Q64988588	Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis.
Q35602861	Personalized genomic analyses for cancer mutation discovery and interpretation
Q37240475	Personalized genomic disease risk of volunteers
Q30863802	Pharmacogenomics of neuropsychiatric disorders: analysis of genetic variability in 162 identified neuroreceptors using 1000 Genomes Project data
Q47102406	Phenotype inference in an Escherichia coli strain panel.
Q33868804	Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
Q51660203	Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Q47253821	Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Q38328874	Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy
Q34555428	Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
Q24813109	Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs
Q42698843	Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
Q33880273	Pleomorphic Liposarcoma Arising in a Lipoleiomyosarcoma of the Uterus: Report of a Case With Genetic Profiling by a Next Generation Sequencing Panel
Q39289831	Poly-gene fusion transcripts and chromothripsis in prostate cancer
Q40195826	Polycystic Kidney Disease without an Apparent Family History
Q41553158	Polymorphisms associated with expression of BPIFA1/BPIFB1 and lung disease severity in cystic fibrosis
Q56994843	Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut
Q37119358	Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk
Q43011482	Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India
Q38457786	Population Level Purifying Selection and Gene Expression Shape Subgenome Evolution in Maize.
Q36031769	Population-Based Resequencing of LIPG and ZNF202 Genes in Subjects with Extreme HDL Levels
Q41234756	Population-based variation in cardiomyopathy genes
Q33883099	Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance
Q46488118	Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.
Q34416597	Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia
Q27312155	Positional cloning of zinc finger domain transcription factor Zfp69, a candidate gene for obesity-associated diabetes contributed by mouse locus Nidd/SJL
Q37313653	Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young
Q26748603	Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine
Q88653167	Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
Q89790830	Predicting clinical benefit of immunotherapy by antigenic or functional mutations affecting tumour immunogenicity
Q30398465	Predicting disease-associated substitution of a single amino acid by analyzing residue interactions
Q38946091	Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling
Q51499222	Predicting phenotypic variation in yeast from individual genome sequences.
Q37448909	Predicting potentially functional SNPs in drug-response genes.
Q41485383	Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing
Q62495272	Predicting the clinical impact of human mutation with deep neural networks
Q40681372	Predicting the combined effect of multiple genetic variants
Q33256570	Predicting the effect of missense mutations on protein function: analysis with Bayesian networks
Q29547194	Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Q21184005	Predicting the effects of frameshifting indels
Q34341403	Predicting the functional consequences of cancer-associated amino acid substitutions
Q34441875	Predicting the functional effect of amino acid substitutions and indels
Q42288039	Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
Q45165875	Predicting the impact of single-nucleotide polymorphisms in CDK2-flavopiridol complex by molecular dynamics analysis
Q33305726	Predicting the phenotypic effects of non-synonymous single nucleotide polymorphisms based on support vector machines
Q44916351	Predicting the transactivation activity of p53 missense mutants using a four-body potential score derived from Delaunay tessellations
Q57470276	Predicting variant deleteriousness in non-human species: applying the CADD approach in mouse
Q33354935	Prediction by graph theoretic measures of structural effects in proteins arising from non-synonymous single nucleotide polymorphisms
Q43297858	Prediction of a highly deleterious mutation E17K in AKT-1 gene: An in silico approach
Q33650874	Prediction of deleterious non-synonymous SNPs based on protein interaction network and hybrid properties
Q37378051	Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes
Q28708958	Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases
Q34918130	Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP.
Q91768482	Prediction of disease-associated mutations in the transmembrane regions of proteins with known 3D structure
Q47744585	Prediction of function changes associated with single-point protein mutations using support vector machines (SVMs).
Q47888866	Prediction of functional nonsynonymous single nucleotide polymorphisms in human G-protein-coupled receptors.
Q30383801	Prediction of functionally significant single nucleotide polymorphisms [SNPs] in PTEN tumor suppressor gene: An in silico approach.
Q30401706	Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
Q41955954	Prediction of phenotypes of missense mutations in human proteins from biological assemblies
Q41944897	Prediction of the odorant binding site of olfactory receptor proteins by human-mouse comparisons
Q38334151	Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy
Q58744379	Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients
Q52358749	Prevalence of Plasmodium falciparum delayed clearance associated polymorphisms in adaptor protein complex 2 mu subunit (pfap2mu) and ubiquitin specific protease 1 (pfubp1) genes in Ghanaian isolates
Q56985288	Prioritization of Transporter-Drug Relationships From Drug Sensitivity Screens
Q34324941	Prioritization of pathogenic mutations in the protein kinase superfamily
Q28534371	Prioritizing Potentially Druggable Mutations with dGene: An Annotation Tool for Cancer Genome Sequencing Data
Q99613440	Prioritizing sequence variants in conserved non-coding elements in the chicken genome using chCADD
Q45755403	Profiling deleterious non-synonymous SNPs of smoker's gene CYP1A1.
Q55490908	Protein dynamic communities from elastic network models align closely to the communities defined by molecular dynamics.
Q30407525	Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Q28266927	Protein tolerance to random amino acid change
Q34019480	Protein-based signatures of functional evolution in Plasmodium falciparum
Q37404551	Pthlh, a promising cancer modifier gene in rat tongue carcinogenesis
Q35557599	PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level.
Q24814463	PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes
Q37725884	Pyridoxine responsiveness in novel mutations of the PNPO gene
Q41896593	QTL dissection of Lag phase in wine fermentation reveals a new translocation responsible for Saccharomyces cerevisiae adaptation to sulfite
Q41848430	Quantitative prediction of the effect of genetic variation using hidden Markov models
Q30360015	RILM: a web-based resource to aid comparative and functional analysis of the insulin and IGF-1 receptor family.
Q64104123	RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas
Q35571989	RNF213 rare variants in an ethnically diverse population with Moyamoya disease
Q39436445	ROS mediated selection for increased NADPH availability in Escherichia coli
Q30432746	Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study
Q34407392	Range of cell-wall alterations enhance saccharification in Brachypodium distachyon mutants
Q33968927	Ranking insertion, deletion and nonsense mutations based on their effect on genetic information
Q34427162	Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
Q45092717	Rapid and safe response to low-dose carbamazepine in neonatal epilepsy
Q37347882	Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways
Q37019258	Rare coding TTN variants are associated with electrocardiographic QT interval in the general population
Q33554696	Rare deleterious mutations are associated with disease in bipolar disorder families
Q35674705	Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.
Q54709457	Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
Q37395786	Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Q58739322	Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease
Q33884006	Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Q35634476	Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition
Q55428769	Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Q40094101	Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks
Q28253753	Recent and ongoing selection in the human genome
Q47783149	Recent population decline and selection shape diversity of taxol-related genes.
Q34294841	Reclassification of diabetes etiology in a family with multiple diabetes phenotypes
Q39501443	Recombination Rate Variation, Hitchhiking, and Demographic History Shape Deleterious Load in Poplar
Q36265886	Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer
Q27851629	Recurrent DNMT3A mutations in patients with myelodysplastic syndromes
Q40911983	Recurrent Respiratory Infections Revealing CD8α Deficiency
Q30420795	Recurrent ZFX mutations in human sporadic parathyroid adenomas
Q92405099	Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation
Q35189423	Reduced Representation Libraries from DNA Pools Analysed with Next Generation Semiconductor Based-Sequencing to Identify SNPs in Extreme and Divergent Pigs for Back Fat Thickness
Q51128388	Reduced selection and accumulation of deleterious mutations in genes exclusively expressed in men.
Q51560365	Reevaluation of RINT1 as a breast cancer predisposition gene.
Q46112819	Refinement of IKZF1 status in pediatric Philadelphia-positive acute lymphoblastic leukemia.
Q36944701	Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease
Q28607199	Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family
Q87415260	Reply to Francesco Piva, Matteo Santoni, Marina Scarpelli, et al's Letter to the Editor re: Daniel M. Geynisman. Anti-programmed Cell Death Protein 1 (PD-1) Antibody Nivolumab Leads to a Dramatic and Rapid Response in Papillary Renal Cell Carcinoma
Q35997577	Response to DNA damage of CHEK2 missense mutations in familial breast cancer
Q53752724	RettBASE: Rett syndrome database update.
Q57077780	Review of the initial validation and characterization of a 3K chicken SNP array
Q53403831	Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
Q30384327	Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity.
Q57168739	RheoScale: A tool to aggregate and quantify experimentally determined substitution outcomes for multiple variants at individual protein positions
Q35939487	Robust classification of protein variation using structural modelling and large-scale data integration
Q28689107	Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
Q48111481	SAAMP 2.0: an algorithm to predict genotype-phenotype correlation of lysosomal storage diseases
Q48094713	SIFT missense predictions for genomes
Q36088562	SIFT web server: predicting effects of amino acid substitutions on proteins
Q29547211	SIFT: Predicting amino acid changes that affect protein function
Q37322155	SIRPα polymorphisms, but not the prion protein, control phagocytosis of apoptotic cells
Q46066743	SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Q34631704	SNAP: predict effect of non-synonymous polymorphisms on function
Q35537135	SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms
Q34243865	SNPdbe: constructing an nsSNP functional impacts database
Q33423394	SNPit: a federated data integration system for the purpose of functional SNP annotation
Q35056507	SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
Q48601559	SPACA3 gene variants in a New Zealand cohort of infertile and fertile couples.
Q30389520	STRUM: structure-based prediction of protein stability changes upon single-point mutation
Q33614019	SVScore: an impact prediction tool for structural variation
Q35864452	Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease
Q36100484	Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation
Q21263125	Screening of functional and positional candidate genes in families with common variable immunodeficiency
Q35112487	Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver
Q53010655	Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.
Q28606408	Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis
Q30383255	Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
Q33258062	Searching for interpretable rules for disease mutations: a simulated annealing bump hunting strategy
Q38916830	Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect
Q38604376	Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts
Q34070504	Segtor: rapid annotation of genomic coordinates and single nucleotide variations using segment trees.
Q41885438	Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation
Q35269669	Separation-of-function mutation in HPC2, a member of the HIR complex in S. cerevisiae, results in derepression of the histone genes but does not confer cryptic TATA phenotypes
Q61053884	Sequence Analysis of TNFRSF13b, Encoding TACI, in Patients with Systemic Lupus Erythematosus
Q28284189	Sequence diversity and haplotype structure at the human CYP3A cluster
Q57476670	Sequence variant analysis of RNA sequences in severe equine asthma
Q36965341	Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea
Q24804913	Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms
Q37395103	Sequence variations of GRM6 in patients with high myopia.
Q35946228	Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations
Q30426634	Sequence-only evolutionary and predicted structural features for the prediction of stability changes in protein mutants
Q42134797	Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency
Q52544730	Settling the score: variant prioritization and Mendelian disease.
Q64259664	Shedding Light on the Interaction of Human Anti-Apoptotic Bcl-2 Protein with Ligands through Biophysical and in Silico Studies
Q35049405	Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity
Q33701126	Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2.
Q38591731	Single nucleotide polymorphisms in clinics: Fantasy or reality for cancer?
Q38705277	Sirtuin 2 mutations in human cancers impair its function in genome maintenance.
Q42365650	Six Germline Genetic Variations Impair the Translesion Synthesis Activity of Human DNA Polymerase κ.
Q45427744	Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern
Q34763259	Somatic mutations in cerebral cortical malformations
Q33827911	Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis.
Q55280468	Somatic mutations in early onset luminal breast cancer.
Q40966042	Sorghum Dw2 Encodes a Protein Kinase Regulator of Stem Internode Length
Q45934295	Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.
Q30500895	Spectrum of disease-causing mutations in protein secondary structures
Q42643718	Sporadic PCDH18 somatic mutations in EpCAM-positive hepatocellular carcinoma
Q36675879	Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing
Q28282010	Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders
Q57024773	Statistical Genetics: Usual suspects in complex disease
Q51307806	Statistical analysis of missense mutation classifiers.
Q33224439	Statistical geometry approach to the study of functional effects of human nonsynonymous SNPs
Q30356393	Status quo of annotation of human disease variants.
Q33309456	Stereochemical criteria for prediction of the effects of proline mutations on protein stability
Q37449698	Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
Q92346848	Structural and Functional Analysis of human lung cancer risk associated hOGG1 variant Ser326Cys in DNA repair gene by molecular dynamics simulation
Q30356499	Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis.
Q30404960	Structural and functional impact of cancer-related missense somatic mutations
Q53251211	Structural assessment of single amino acid mutations: application to TP53 function.
Q42637603	Structural characterization of carangid fish myoglobins
Q34778733	Structural modeling and in silico analysis of human superoxide dismutase 2
Q41814389	Structure-function dissection of the frizzled receptor in Drosophila melanogaster suggests different mechanisms of action in planar polarity and canonical Wnt signaling
Q45405994	Structure-function studies on non-synonymous SNPs of chemokine receptor gene implicated in cardiovascular disease: a computational approach
Q36907444	Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume
Q34419370	SuSPect: enhanced prediction of single amino acid variant (SAV) phenotype using network features
Q47145272	Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations
Q36856769	Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease
Q40155771	Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis
Q28284630	Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers
Q57072157	Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis
Q35746027	Systematic Mapping of Protein Mutational Space by Prolonged Drift Reveals the Deleterious Effects of Seemingly Neutral Mutations
Q28263201	Systematic analysis and functional annotation of variations in the genome of an Indian individual
Q36474966	Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction
Q24318968	T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease
Q37657090	TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.
Q92218010	TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia
Q39025113	TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease
Q34411726	TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
Q24299150	TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy
Q33565553	TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway
Q33209956	Target-selected gene inactivation in zebrafish.
Q30847057	Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy
Q47422471	Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting.
Q37436780	Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
Q58802463	Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study
Q37536637	Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis
Q34934917	Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients
Q34579607	Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase
Q33847792	Testing for an unusual distribution of rare variants
Q44985009	Testing for modes of inheritance involving compound heterozygotes
Q35746371	The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer
Q37902560	The ApoE gene of Alzheimer's disease (AD).
Q40048498	The Bioinformatics Report of Mutation Outcome on NADPH Flavin Oxidoreductase Protein Sequence in Clinical Isolates of H. pylori.
Q91052598	The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders
Q39616436	The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions
Q41588226	The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens.
Q34662587	The ESR1 gene is associated with risk for canine mammary tumours
Q30009552	The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages
Q38538068	The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism
Q35882309	The Genetic Map Enters Its Second Century
Q38116511	The Genetics of Keratoconus: A Review
Q61800976	The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits
Q54941413	The Pattern and Distribution of Induced Mutations in J. curcas Using Reduced Representation Sequencing.
Q40202718	The Potential Mutation of GAK Gene in the Typical Sporadic Parkinson's Disease from the Han Population of Chinese Mainland.
Q52753945	The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.
Q54473219	The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Q24793270	The amino-acid mutational spectrum of human genetic disease
Q41146232	The barley Uniculme4 gene encodes a BLADE-ON-PETIOLE-like protein that controls tillering and leaf patterning
Q51152901	The circadian gene Arntl2 on distal mouse chromosome 6 controls thymocyte apoptosis.
Q21972855	The common marmoset genome provides insight into primate biology and evolution
Q55001214	The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.
Q36936851	The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic
Q38689356	The effects of sampling on the efficiency and accuracy of k-mer indexes: Theoretical and empirical comparisons using the human genome
Q34592835	The evolutionary history of amino acid variations mediating increased resistance of S. aureus identifies reversion mutations in metabolic regulators
Q36971433	The exomes of the NCI-60 panel: a genomic resource for cancer biology and systems pharmacology
Q24804607	The functional importance of disease-associated mutation
Q36805023	The functional relevance of somatic synonymous mutations in melanoma and other cancers
Q47110206	The genetic profile of Leber congenital amaurosis in an Australian cohort
Q28074414	The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance
Q36591109	The impact of low-frequency and rare variants on lipid levels
Q37863302	The impact of next-generation sequencing on genomics
Q46149500	The impact of rare variation on gene expression across tissues
Q92305781	The impact of the genetic background on gene deletion phenotypes in Saccharomyces cerevisiae
Q34955848	The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol
Q55057046	The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
Q35297715	The response of Caenorhabditis elegans to hydrogen sulfide and hydrogen cyanide
Q31018970	The role of functional data in interpreting the effects of genetic variation
Q34987266	The role of the interactome in the maintenance of deleterious variability in human populations
Q36070941	The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.
Q30359929	The structural basis of hyper IgM deficiency - CD40L mutations.
Q37295015	The use of hierarchical models for estimating relative risks of individual genetic variants: an application to a study of melanoma
Q33594401	The use of orthologous sequences to predict the impact of amino acid substitutions on protein function
Q35053870	There is variability in the attainment of developmental milestones in the CDKL5 disorder.
Q37327493	Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations.
Q42906676	Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
Q36940987	Toll-like receptor 1 polymorphisms and associated outcomes in sepsis after traumatic injury: a candidate gene association study
Q38857623	Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation
Q38267933	Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.
Q39034639	Toward the next step in G protein-coupled receptor research: a knowledge-driven analysis for the next potential targets in drug discovery.
Q33715655	Towards sequence-based prediction of mutation-induced stability changes in unseen non-homologous proteins
Q39506544	Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement
Q55339783	TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.
Q49921821	Tumour TIF1 mutations and loss of heterozygosity related to cancer-associated myositis.
Q34617467	Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans
Q43079461	Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
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P356	DOI	10.1101/GR.176601
P8608	Fatcat ID	release_3pk4hisuprcspf7rj2vl27qrlm
P3181	OpenCitations bibliographic resource ID	72652
P932	PMC publication ID	311071
P698	PubMed publication ID	11337480
P5875	ResearchGate publication ID	12000560

P2093	author name string	P C Ng
		S Henikoff
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P433	issue	5
P407	language of work or name	English	Q1860
P304	page(s)	863-74
P577	publication date	2001-05-01
P1433	published in	Genome Research	Q5533485
P1476	title	Predicting deleterious amino acid substitutions
P478	volume	11

Predicting deleterious amino acid substitutions

scientific article

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