genomes online database Search Results


access 1.7 software  (BioNano Genomics)
90
BioNano Genomics access 1.7 software
Access 1.7 Software, supplied by BioNano Genomics, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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a baumannii atcc baa 1790  (ATCC)
99
ATCC a baumannii atcc baa 1790
A Baumannii Atcc Baa 1790, supplied by ATCC, used in various techniques. Bioz Stars score: 99/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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eldorado genome database  (Genomatix gmbh)
90
Genomatix gmbh eldorado genome database
Eldorado Genome Database, supplied by Genomatix gmbh, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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omim and simulconsult searches  (SimulConsult Inc)
90
SimulConsult Inc omim and simulconsult searches
Summary of patients not solved exclusively by ES: Patient summaries include clinical features, UDN diagnoses & <t> OMIM </t> clinical synopsis numbers. Variants specify type, gene and ClinVar classification. Proof details type of variant, detection method and functional verification (cDNA analysis, CNV detection method, repeat expansion) and basis of clinical diagnosis
Omim And Simulconsult Searches, supplied by SimulConsult Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genomes+online+database/omim+and+simulconsult+searches/pmc08057342-76-12-14
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omim database  (Johns Hopkins HealthCare)
90
Johns Hopkins HealthCare omim database
a , Classification of BM zone genes according to phenotypes within <t>OMIM</t> and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of <t>inheritance</t> for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.
Omim Database, supplied by Johns Hopkins HealthCare, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genomes+online+database/omim+database/bio_rxiv__2021__10__25__465762-220-32-44
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omim database - by Bioz Stars, 2026-10
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curated gene-disease associations  (ClinGen Resource)
90
ClinGen Resource curated gene-disease associations
a , Classification of BM zone genes according to phenotypes within <t>OMIM</t> and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of <t>inheritance</t> for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.
Curated Gene Disease Associations, supplied by ClinGen Resource, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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Average 90 stars, based on 1 article reviews
curated gene-disease associations - by Bioz Stars, 2026-10
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ncbi sequenced read archives  (Biotechnology Information)
86
Biotechnology Information ncbi sequenced read archives
a , Classification of BM zone genes according to phenotypes within <t>OMIM</t> and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of <t>inheritance</t> for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.
Ncbi Sequenced Read Archives, supplied by Biotechnology Information, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genomes+online+database/biotechnology+information+ncbi+sequence/pmc12614512-35-14-12
Average 86 stars, based on 1 article reviews
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fusarium graminearum database  (Broad Institute Inc)
90
Broad Institute Inc fusarium graminearum database
a , Classification of BM zone genes according to phenotypes within <t>OMIM</t> and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of <t>inheritance</t> for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.
Fusarium Graminearum Database, supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genomes+online+database/fusarium+graminearum/10__1007_slash_s10658___006___9048___x-90-20-31
Average 90 stars, based on 1 article reviews
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genome database  (Johns Hopkins HealthCare)
90
Johns Hopkins HealthCare genome database
a , Classification of BM zone genes according to phenotypes within <t>OMIM</t> and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of <t>inheritance</t> for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.
Genome Database, supplied by Johns Hopkins HealthCare, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genomes+online+database/genome+database/10__1042_slash_bj3340565-120-13-19
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genome database - by Bioz Stars, 2026-10
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microsporidia comparative database  (Broad Institute Inc)
90
Broad Institute Inc microsporidia comparative database
a , Classification of BM zone genes according to phenotypes within <t>OMIM</t> and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of <t>inheritance</t> for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.
Microsporidia Comparative Database, supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genomes+online+database/microsporidia+comparative+database/pmc04564322-35-7-1
Average 90 stars, based on 1 article reviews
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online kegg database  (GENEO BioTechProducts GmbH)
90
GENEO BioTechProducts GmbH online kegg database
a , Classification of BM zone genes according to phenotypes within <t>OMIM</t> and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of <t>inheritance</t> for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.
Online Kegg Database, supplied by GENEO BioTechProducts GmbH, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genomes+online+database/kyoto+encyclopedia+of+genes+and+genomes++kegg++database/pm37634413-105-11-13
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online kegg database - by Bioz Stars, 2026-10
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omim references  (ClinGen Resource)
90
ClinGen Resource omim references
a , Classification of BM zone genes according to phenotypes within <t>OMIM</t> and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of <t>inheritance</t> for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.
Omim References, supplied by ClinGen Resource, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/genomes+online+database/omim/pmc08897431-186-9-16
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Image Search Results


Summary of patients not solved exclusively by ES: Patient summaries include clinical features, UDN diagnoses & OMIM clinical synopsis numbers. Variants specify type, gene and ClinVar classification. Proof details type of variant, detection method and functional verification (cDNA analysis, CNV detection method, repeat expansion) and basis of clinical diagnosis

Journal: American journal of medical genetics. Part A

Article Title: Limitations of exome sequencing in detecting rare and undiagnosed diseases

doi: 10.1002/ajmg.a.61558

Figure Lengend Snippet: Summary of patients not solved exclusively by ES: Patient summaries include clinical features, UDN diagnoses & OMIM clinical synopsis numbers. Variants specify type, gene and ClinVar classification. Proof details type of variant, detection method and functional verification (cDNA analysis, CNV detection method, repeat expansion) and basis of clinical diagnosis

Article Snippet: Each UDN evaluation at Vanderbilt included: (a) review of medical records, (b) OMIM and SimulConsult (Chestnut Hill, MA) searches using key features, (c) physical examinations and clinical/research consultations, and usually (d) ES or GS analyses of participants and selected relatives using PhenoDB and Fabric Genomics Opal pipelines, BioVU ( https://victr.vanderbilt.edu/pub/biovu ) phenotype searches, structural biology modeling, and co-segregation studies.

Techniques: Variant Assay, Functional Assay, Glycoproteomics, Methylation, DNA Methylation Assay, Biomarker Discovery, Clinical Proteomics, Staining

a , Classification of BM zone genes according to phenotypes within OMIM and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of inheritance for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.

Journal: bioRxiv

Article Title: A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations

doi: 10.1101/2021.10.25.465762

Figure Lengend Snippet: a , Classification of BM zone genes according to phenotypes within OMIM and HPO databases (left), and level of evidence for disease causation within Genomics England PanelApp database (right); see also Supplementary tables 13-14 ). b , Bar chart depicting mode of inheritance for 112 BM zone genes with disease associations (AD: autosomal dominant, AR: autosomal recessive, XL: X-linked). c , Dot plot illustrates phenotypic abnormalities (HPO terms) associated with BM zone genes grouped by their matrisome classifications. Dot size indicates gene count in each category. d , Landscape of BM zone gene variants identified in the Genomics England 100KGP cohort ( Supplementary table 15 ). e , Odds ratio (OR) plots (comparing individuals with disease to unaffected relatives) for all variants (left) or variants grouped according to disease association evidence for the respective BM zone genes (right). **** p -value < 0.0001, Fisher’s Exact test. f , High penetrance homozygous pLoF variants were identified for 29 BM zone genes, including † components previously associated with BM-linked disease, and new disease candidates. Potential disease-causing mechanisms were investigated for genes highlighted in bold.

Article Snippet: We manually searched for each of the BM and CSI genes within the following databases: Human Phenotype Ontology (HPO) database ( https://hpo.jax.org/app/ ), the Genomics England PanelApp ( https://panelapp.genomicsengland.co.uk ), and the Online Mendelian Inheritance in Man (OMIM) database (McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University Baltimore, MD; https://omim.org/ ).

Techniques: