Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders

McKusick, V. A. (1998) · DigitalGeorgetown (Georgetown University Library) · Cited by 681

UNRAVELLING THE MOLECULAR LINKAGE OF CO-MORBID DISEASES: DIABETES MELLITUS, HYPERTENSION AND CORONARY ARTERY DISEASE

., V. M. (2013) · International Journal of Research in Engineering and Technology · doi:10.15623/ijret.2013.0212018 · Cited by 1

Disease gene discovery of single-gene disorders based on complex network

Xing, C., Wu, S., Shao, F., & Sun, R. (2016) · IEEE/ACM International Conference on Big Data Computing, Applications and Technologies (BDCAT) · doi:10.1145/3006299.3006316 · Cited by 1

Network Analysis of Obesity Expression Data

Kumar, A., & Gupta, K. (2017) · InTech eBooks · doi:10.5772/65292

A Look to the Future

Scott, E. R., & Wallsten, R. L. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-812626-4.00010-3 · Cited by 1

Identifying Candidate Disease Gene GAD2 for Obesity by Computational Gene Prioritization Tool ENDEAVOUR

Zhang, H., Song, X., & Wang, H. (2009) · Communications in computer and information science · doi:10.1007/978-3-642-10616-3_2 · Cited by 1

Introduction: putting it together

(2003) · Nature Genetics · doi:10.1038/ng1188 · Cited by 1

Question 3 During a positional cloning project aimed at finding a human disease gene, linkage data have been obtained suggesting that the gene of interest lies between two sequence-tagged site markers. How can all the known and predicted candidate genes in this interval be identified? What BAC clones cover that particular region?

(2003) · Nature Genetics · doi:10.1038/ng1191 · Cited by 1

Searching Online Mendelian Inheritance in Man ( OMIM ) for Information for Genetic Loci Involved in Human Disease

Baxevanis, A. D. (2002) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0913s35 · Cited by 1

Network Pharmacology‐Based Dissection of the Mechanism of Drynariae Rhizoma for Low Back Pain

Wen, F., Yu, J. J., & Cheng, Y. (2022) · BioMed Research International · doi:10.1155/2022/6092424 · Cited by 1

A reproducible experimental survey on biomedical sentence similarity: A string-based method sets the state of the art

Lara-Clares, A., Lastra-Díaz, J. J., & García-Serrano, A. M. (2022) · PLoS ONE · doi:10.1371/journal.pone.0276539 · Cited by 1

Identifying driver genes in cancer based on Pareto optimality consensus

Deng, Z., Wu, J., Chen, X., & Li, G. (2022) · IEEE International Conference on Bioinformatics and Biomedicine (BIBM) · doi:10.1109/bibm55620.2022.9995113 · Cited by 1

Bioinformatics concepts and applications: A review

Abdul-Zahra, D. S., Mohammed, K. A., Abbas, A. H., Zabibah, R. S., & Alrubaie, A. J. (2023) · AIP conference proceedings · doi:10.1063/5.0161417 · Cited by 1

Reporting Two Rare Mutations With Associated Clinical Features in Bangladeshi Hb E/B Thalassemia Patients

Aziz, M. A., Khan, N. T., Khan, W. A., Ayub, M. I., & Yeasmin, S. (2023) · Bioresearch Communications · doi:10.3329/brc.v10i1.70683 · Cited by 1

Network pharmacology in phytochemical research

Fatokun, A. A., Nahar, L., & Sarker, S. D. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-16102-5.00004-3 · Cited by 1

Exploring the Comorbidity Mechanism among Functional Diarrhea, Irritable Bowel Syndrome with Predominant Diarrhea, and Functional Dyspepsia through the Gut-brain Axis and the Pharmacological Mechanisms of Shen-Ling-Bai-Zhu-San Therapy

Mei, C., Han, L., & Xue, H. (2025) · Combinatorial Chemistry & High Throughput Screening · doi:10.2174/0113862073329698250102120037 · Cited by 1

Unraveling the Gut Microbiota-mediated Anti-tumor Mechanisms of ShenXia KuanZhong Decoction in Gastric Cancer: a Systems Biology and Dose-weighted Network Pharmacology Approach

Zhou, Z., Fang, Y., Song, L., Wang, Y., & Fang, Z. (2025) · Biological Procedures Online · doi:10.1186/s12575-025-00304-2 · Cited by 1

Prediction of disease–drug relationships based on tissue specificity and direct neighbor similarity

Zhao, J., & Yu, L. (2019) · Scientia Sinica Informationis · doi:10.1360/n112018-00324 · Cited by 1

Discovering Traditional Chinese Medicinal Herbs for Neurodegenerative Disorders

Liu, X., Jia, C., Wu, C., Wang, N., JIA, Y., Zhu, Y., Li, P., Murtaza, G., & Zhang, K. (2020) · Indian Journal of Pharmaceutical Sciences · doi:10.36468/pharmaceutical-sciences.spl.63 · Cited by 1

Next generation sequencing in Western Indian children with nephrolithiasis and/or nephrocalcinosis: An observational study

Saha, A., Vala, K. B., & Patel, H. V. (2021) · Indian Journal of Child Health · doi:10.32677/ijch.2021.v08.i04.002 · Cited by 1

Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2

Cheng, L. Z., Yang, F., Chen, X., Kang, J., Li, J., Zhang, Y., Liu, J., Li, J., Ma, J., & Duan, J. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.938457 · Cited by 1

Information Resources for Genes and Proteins

Higgs, P. G., & Attwood, T. K. (2004) · doi:10.1002/9781118697078.ch5 · Cited by 1

Avaliação da imunocompetência de portadores da síndrome de Rubinstein-taybi.

Torres, L. C. (2008) · doi:10.11606/t.42.2008.tde-01092008-192345 · Cited by 1

Uses of databases

Pagon, R. A. (2005) · Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics · doi:10.1002/047001153x.g106413 · Cited by 1

Using Drosophila melanogaster Data to Discover Disease-Related Protein Interactions in Humans

Costello, J. C., Carter, J., Dalkilic, M. M., & Andrews, J. (2007) · IEEE Conference on Computational Intelligence in Bioinformatics and Computational Biology (CIBCB) · doi:10.1109/cibcb.2007.4221257 · Cited by 1

Development of novel Classical and Quantum Information Theory Based Methods for the Detection of Compensatory Mutations in MSAs

Gültaş, M. (2014) · doi:10.53846/goediss-4501 · Cited by 1

TF-TWAS: Transcription-factor polymorphism associated with tissue-specific gene expressionPreprint

Tang, Y.-C., & Gottlieb, A. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/405936 · Cited by 1

Bioinformatics: Protein Tyrosine Phosphatases

Møller, N. P. H., Jansen, P. G., Iversen, L. F., & Andersen, J. N. (2003) · Elsevier eBooks · doi:10.1016/b978-012124546-7/50471-x · Cited by 1

Opportunities and Challenges for Interpreting Rare Variation in Clinically Important GenesPreprint

McInnes, G., Sharo, A. G., Koleske, M. L., Brown, J. E. H., Norstad, M., Adhikari, A. N., Wang, S., Brenner, S. E., Halpern, J., Koenig, B. A., et al. (2020) · Preprints.org · doi:10.20944/preprints202011.0599.v1 · Cited by 1

Repetitive DNA Sequences

Clark, A. G., Barbash, D. A., Lower, S. E., & Dion-Coté, A.-M. (2020) · MDPI eBooks · doi:10.3390/books978-3-03928-367-5 · Cited by 1

Question 10 For a given protein, how can one determine whether it contains any functional domains of interest? What other proteins contain the same functional domains as this protein? How can one determine whether there is a similarity to other proteins, not only at the sequence level, but also at the structural level?

(2003) · Nature Genetics · doi:10.1038/ng1198 · Cited by 1

Correction: High Accordance in Prognosis Prediction of Colorectal Cancer across Independent Datasets by Multi-Gene Module Expression Profiles

Li, W., Wang, R., Yan, Z., Bai, L., & Sun, Z. (2012) · PLoS ONE · doi:10.1371/annotation/59a30e2e-76cf-4b51-9489-5bf0c2394afb · Cited by 1

Question 12 How does a user find characterized mouse mutants corresponding to human genes?

(2002) · Nature Genetics · doi:10.1038/ng977 · Cited by 1

Network pharmacological study of ethyl acetate fraction of Ophioglossum vulgatum Linn. in alopecia treatmentPreprint

Zhu, L., Lai, Y., Du, H., Li, H., & Ding, B. (2022) · Research Square · doi:10.21203/rs.3.rs-2267776/v1 · Cited by 1

National and Ethnic Mutation Frequency Databases: Cross Comparison and Future DirectionPreprint

Khan, S., Alam, M., Khan, S.-N. H., Khan, W., Rabbi, I., & Qasim, I. (2023) · Preprints.org · doi:10.20944/preprints202302.0305.v1 · Cited by 1

Patogênese genética-molecular da síndrome nefrótica córtico-resistente, síndrome nefrótica congênita e glomeruloesclerose segmentar e focal: realidade e contribuições da análise de uma população pediátrica brasileira

Watanabe, A. (2023) · doi:10.11606/t.5.2023.tde-03052023-121121 · Cited by 1

Functional Context Network of T2DM

Thormann, A., & Rasche, A. (2011) · InTech eBooks · doi:10.5772/24700

Informatics (Computational Biology)

Lengauer, T. (2004) · Wiley-VCH eBooks · doi:10.1002/3527600906.mcb.200400023

Protein Sequence Variants: Resources and Tools

Yip, Y. L., Famiglietti, M. L., Gasteiger, E., & Bairoch, A. (2008) · Protein Science Encyclopedia · doi:10.1002/9783527610754.md03

Bioinformatics Approaches for Identifying Allelic Variants in Candidate Pathways underlying Major Depression and Antidepressant Treatment Response

Irizarry, K. J. L. (2005) · doi:10.1002/9783527619672.ch36

Desarrollo de algoritmos bioinformáticos para estudios de genómica funcional: aplicaciones en cáncer

Fontanillo, C. (2013) · Gredos (University of Salamanca) · doi:10.14201/gredos.122975

Bioinformatics Tools for Gene Function Prediction

Cui, Y. (2011) · Wiley eBooks · doi:10.1002/9780470933947.ch6

Microarrays: Use in Mutation Detection

Syvänen, A. (2006) · Wiley eBooks · doi:10.1038/npg.els.0005954

The genetic landscape from single gene to polygenic disorders

Roberts, R. (2010) · Current Opinion in Cardiology · doi:10.1097/hco.0b013e328338a2b4

Quantitative measurement of clinic-genomic association for colorectal cancer using literature mining and Google-distance algorithm

Feng, Y., Zheng, L., Song, L., Duan, H., & Deng, N. (2014) · International Conference on Biomedical Engineering and Informatics (BMEI) · doi:10.1109/bmei.2014.7002870

Victor A. McKusick (1921-2008)

Romeo, G. C. (2008) · médecine/sciences · doi:10.1051/medsci/200824121103

Genetic resources for the neonatologist

Kaufman, L., & Herbert, M. (2005) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2005.02.002

Protein Network for Associating Genes with Dementia

Gupta, B., & Mishra, R. B. (2013) · International Journal of Computer Applications · doi:10.5120/14486-2795

Towards Analysing Information Management Requirements in New Zealand Genetic Services

Gu, Y., & Warren, J. (2008) · Asia-Pacific Software Engineering Conference (APSEC) · doi:10.1109/apsec.2008.65

Abordagem Computacional para Identificar Novos SNVs em Bases de Dados de ESTs

Guarischi‐Sousa, R. (2012) · doi:10.11606/d.17.2012.tde-23042013-082406

Dynamically generating a protein entity dictionary using online resources

Liu, H., Hu, Z.-Z., & Wu, C. H. (2005) · doi:10.3115/1225753.1225758

Bioinformatics Algorithms for Identification of Amino Acid Mutations in Tandem Mass Spectrometry

Ma, J., Shu, K., Yu, Q., Wu, S., & Zhu, Y. (2014) · Scientia Sinica Vitae · doi:10.1360/n052014-00099

Correction: Equivalent Indels – Ambiguous Functional Classes and Redundancy in Databases

Aßmus, J., Kleffe, J., Schmitt, A. O., & Brockmann, G. A. (2013) · PLoS ONE · doi:10.1371/annotation/7e304601-fc5c-40fe-857c-d6ea894d1647

Multi-resolution functional summarization and alignment of biological network models

Seah, B.-S. (2014) · DR-NTU (Nanyang Technological University) · doi:10.32657/10356/60641

Integration of heterogeneous data sources for identification of disease genes using computational techniques

Li, Y. (2011) · doi:10.32657/10356/43993

Das CHARGE-Syndrom – Quantifizierung eines Gonadenmosaiks und Interaktionspartnersuche des CHD7-Gens

Pieper, L. (2013) · doi:10.53846/goediss-3699

Data Sources and Models

Fassetti, F., Rombo, S. E., & Serrao, C. (2017) · SpringerBriefs in computer science · doi:10.1007/978-3-319-63477-7_1

Edifi ce of vitiDB: A fi rst ever structured portal for vitiligo protein repository and its assessment

Malhotra, A. G., Singh, S., Jha, M., & Pandey, K. M. (2017) · Bioscience Biotechnology Research Communications · doi:10.21786/bbrc/10.2/3

Gene modules associated with human diseases revealed by network analysisPreprint

Ma, S., Gong, J., Zuo, W., Geng, H., Zhang, Y., Wang, M., Han, E., Peng, J., Wang, Y., Wang, Y., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/598151

Structural Consequences of Disease‐Related Mutations for Protein–Protein Interactions

Rosell, M., & Fernández‐Recio, J. (2020) · Wiley eBooks · doi:10.1002/9780470015902.a0028975

Processo Centrado no Usuário para Geração de Laudos Genéticos

Morais, D., & Caraciolo, M. (2015) · doi:10.5753/sbcas.2015.10387

Estudos funcionais e biológicos associados à interação de DUSP3 com a proteína HNRNPC1/C2

Ferruzo, P. Y. M. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.46.2019.tde-10032020-133756

Learning graph representations for disease gene prediction

Ata, S. K. (2019) · doi:10.32657/10356/137913

Lost in Translation: The Pitfalls of Ensembl Gene Annotations Between Human Genome Assemblies and Their Impact on DiagnosticsPreprint

Abdallah, M. O. E., Koko, M., & Ramesar, R. (2020) · Research Square · doi:10.21203/rs.3.rs-131927/v1

Informatics Infrastructure for Evidence-Based Cancer Medicine

Bond, J. P., & Luria, S. D. (2006) · Springer eBooks · doi:10.1007/0-387-31056-8_10

Analysis of Antidepressant Mechanism of Yueju Pill and Chaihu Shugan Powder in Treating Depression with “the Same Disease with Different Treatments”

黄, 志. (2021) · Traditional Chinese Medicine · doi:10.12677/tcm.2021.101001

Drug Repositioning Method Based on Deep Neural Network

Zhang, G., Gao, Z., Zhang, Y., Yan, C., & Wang, J. (2021) · International Conference on Information Communication and Software Engineering (ICICSE) · doi:10.1109/icicse52190.2021.9404136

Cell Cycle Arrest, An Important Mechanism of Action of Compound Kushen Injection, Prevents Colorectal Cancer: Network Pharmacology Analysis and Experimental ValidationPreprint

Sun, J. Y., Li, M., Wang, D., Lin, T.-R., Chen, J., Zhang, Y., Mu, Q., Su, H., Wu, N., Liu, A., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-646480/v1

Comparação da heterogeneidade clínica entre portadores de desequilíbrios genômicos em 22q11.2 com base no motivo de encaminhamento para análise por microarray cromossômico

Camilotti, D. (2021) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2021.tde-12072021-154318

A Simulation Approach To Invent CYP1A1 Gene Variants Affecting The Protein Structure And Stability In Oral CancerPreprint

Zaker, U. S., Padmavathi, P., Singh, N., Swamy, K. V., Singh, S. A., Badri, K. R., & Reddy, V. D. (2022) · Research Square · doi:10.21203/rs.3.rs-1455106/v1

Using Protein Interactome Similarity to Improve Random Walk with Restart Model for Drug Repurposing

Anjusha, I. T., Saleena, N., & Nazeer, K. A. A. (2022) · Advances in intelligent systems and computing · doi:10.1007/978-981-16-6890-6_29

Peer Review #1 of "Can 9q34.2 rs633862 polymorphism predict survival in epithelial ovarian cancer? (v0.1)"

(2017) · PeerJ · doi:10.7287/peerj.3946v0.1/reviews/1

Question 12 How does a user find characterized mouse mutants corresponding to human genes?

(2003) · Nature Genetics · doi:10.1038/ng1200

Peer Review #2 of "Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants (v0.2)"

(2019) · PeerJ · doi:10.7287/peerj.8106v0.2/reviews/2

Peer Review #2 of "Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants (v0.1)"

(2019) · PeerJ · doi:10.7287/peerj.8106v0.1/reviews/2

Faculty Opinions recommendation of A genetics-led approach defines the drug target landscape of 30 immune-related traits.

Buxbaum, J. D. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736064114.793565046

Genetic Disorders

Langenbeck, U. (2006) · Encyclopedia of Life Sciences · doi:10.1038/npg.els.0005470

Question 10 For a given protein, how can one determine whether it contains any functional domains of interest? What other proteins contain the same functional domains as this protein? How can one determine whether there is a similarity to other proteins, not only at the sequence level, but also at the structural level?

(2002) · Nature Genetics · doi:10.1038/ng975

Question 6 How would one retrieve the sequence of a gene, along with all annotated exons and introns, as well as a certain number of flanking bases for use in primer design?

(2002) · Nature Genetics · doi:10.1038/ng971

Peer Review #3 of "Can 9q34.2 rs633862 polymorphism predict survival in epithelial ovarian cancer? (v0.1)"

(2017) · PeerJ · doi:10.7287/peerj.3946v0.1/reviews/3

Question 8 How can one find all the members of a human gene family?

(2002) · Nature Genetics · doi:10.1038/ng973

Question 3 During a positional cloning project aimed at finding a human disease gene, linkage data have been obtained suggesting that the gene of interest lies between two sequence-tagged site markers. How can all the known and predicted candidate genes in this interval be identified? What BAC clones cover that particular region?

(2002) · Nature Genetics · doi:10.1038/ng968

Question 5 Given a fragment of mRNA sequence, how would one find where that piece of DNA mapped in the human genome? Once its position has been determined, how would one find alternatively spliced transcripts?

(2002) · Nature Genetics · doi:10.1038/ng970

Bioinformatics Tools

Johnson, K., Kullman, S. W., & Lin, S. M. (2004) · Nutrition and disease prevention · doi:10.1201/9780203025925.ch19

Computational Epigenetics

Tong, J. C., & Lim, S. J. (2011) · Wiley-VCH eBooks · doi:10.1002/3527600906.mcb.201100012

Question 13 A user has identified an interesting phenotype in a mouse model and has been able to narrow down the critical region for the responsible gene to approximately 0.5 cM. How does one find the mouse genes in this region?

(2002) · Nature Genetics · doi:10.1038/ng978

Dominating Biological Networks

Bonato, A., Milenković, T., Pržulj, N., & Memišević, V. (2021) · doi:10.32920/14668818.v1

Peer Review #2 of "Finding melanoma drugs through a probabilistic knowledge graph (v0.1)"

(2017) · PeerJ Computer Science · doi:10.7287/peerj-cs.106v0.1/reviews/2

Peer Review #1 of "Can 9q34.2 rs633862 polymorphism predict survival in epithelial ovarian cancer? (v0.2)"

(2017) · PeerJ · doi:10.7287/peerj.3946v0.2/reviews/1

Question 1 How does one find a gene of interest and determine that gene's structure? Once the gene has been located on the map, how does one easily examine other genes in that same region?

(2002) · Nature Genetics · doi:10.1038/ng966

Faculty Opinions recommendation of Pan-genomics in the human genome era.

Mulder, N. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.737328554.793579953

Systematic identification of drug-based prognostic biomarkersby integrating multiomics in breast cancerPreprint

Zhao, H., Yu, L., Ping, Y., Lin, S., Zhang, C., Xu, H., Li, T., Huang, W., Lei, J., Leng, Z., et al. (2020) · doi:10.21203/rs.3.rs-26796/v1

Peer Review #1 of "Finding melanoma drugs through a probabilistic knowledge graph (v0.1)"

(2017) · PeerJ Computer Science · doi:10.7287/peerj-cs.106v0.1/reviews/1

Introduction: putting it together

(2002) · Nature Genetics · doi:10.1038/ng965

Faculty Opinions recommendation of Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Mefford, H. C. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.726890430.793571950

Question 9 Are there ways to customize displays and designate preferences? Can tracks or features be added to displays by users on the basis of their own research?

(2002) · Nature Genetics · doi:10.1038/ng974

Faculty Opinions recommendation of A genetics-led approach defines the drug target landscape of 30 immune-related traits.

Koppelman, G. H. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736064114.793562214

Bioinformatics

Singh, A. A., & Somvanshi, P. (2011) · CRC Press eBooks · doi:10.1201/b11482-4

Peer Review #3 of "Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants (v0.2)"

(2019) · PeerJ · doi:10.7287/peerj.8106v0.2/reviews/3

Peer Review #3 of "Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants (v0.1)"

(2019) · PeerJ · doi:10.7287/peerj.8106v0.1/reviews/3

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

den Dunnen, J. T., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1 · Cited by 1,757

Online Mendelian Inheritance in Man

(2006) · Springer eBooks · doi:10.1007/3-540-29623-9_8084 · Cited by 178

Content and Access

Maglott, D. R., Amberger, J. S., & Hamosh, A. (2012)

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

Amberger, J., Bocchini, C. A., Scott, A. F., & Hamosh, A. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn665 · Cited by 717

Searching Online Mendelian Inheritance in Man ( OMIM ) for Information on Genetic Loci Involved in Human Disease

Baxevanis, A. D. (2012) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0913s73 · Cited by 22