Mendelian Inheritance in Man and Its Online Version, OMIM

Last year marked the 40th anniversary of the publication of the first print edition of Mendelian Inheritance in Man (MIM).1 This seems an appropriate juncture at which to review its origins, evolution, and present status, including and particularly those of its online version, OMIM (Online Mendelian Inheritance in Man). This is an opportunity, at the same time, to review in brief the rapid progress in an important part of medical genetics and genomics, as chronicled in MIM/OMIM over these 40 years, and to contemplate the future challenges of OMIM.

[1]  THE LESSONS OF RARE MALADIES , 1928, British medical journal.

[2]  A. Garrod.  The inborn factors in disease : an essay , 1931 .

[3]  V. McKusick.  Medical genetics 1958-1960 : an annotated review , 1962 .

[4]  On the X chromosome of man. , 1962, The Quarterly review of biology.

[5]  V. McKusick.  A Genetical View of Cardiovascular Disease: The Lewis A. Conner Memorial Lecture , 1964, Circulation.

[6]  V. McKusick,et al.  THE DISTRIBUTION OF CERTAIN GENES IN THE OLD ORDER AMISH. , 1964, Cold Spring Harbor symposia on quantitative biology.

[7]  V. McKusick,et al.  GENETIC STUDIES OF THE AMISH, BACKGROUND AND POTENTIALITIES. , 1964, Bulletin of the Johns Hopkins Hospital.

[8]  R. Weston,et al.  SELF-TEACHING IN HOSPITAL. , 1965, The Lancet.

[9]  V. McKusick.  Medical genetics, 1961-1963 : an annotated review , 1966 .

[10]  A. Krill.  Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes , 1967 .

[11]  B. Migeon,et al.  Human-Mouse Somatic Cell Hybrids with Single Human Chromosome (Group E): Link with Thymidine Kinase Actvity , 1968, Science.

[12]  V. McKusick,et al.  Probable assignment of the Duffy blood group locus to chromosome 1 in man. , 1968, Proceedings of the National Academy of Sciences of the United States of America.

[13]  H. Lubs.  A marker X chromosome. , 1969, American journal of human genetics.

[14]  V A McKusick,et al.  On Lumpers and Splitters, or the Nosology of Genetic Disease , 2015, Perspectives in biology and medicine.

[15]  F. Hecht,et al.  Heritable Fragile Site on Chromosome 16: Probable Localization of Haptoglobin Locus in Man , 1970, Science.

[16]  Sheila M Kohlinsky,et al.  Book Review: The First Conference on the Clinical, Delineation of Birth Defects , 1971 .

[17]  B. Migeon,et al.  Human Thymidine Kinase Gene Locus: Assignment to Chromosome 17 in a Hybrid of Man and Mouse Cells , 1971, Science.

[18]  Victor A. McKusick,et al.  Heritable disorders of connective tissue , 1972 .

[19]  Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation. , 1975, American journal of human genetics.

[20]  A. Garrod.  The Incidence of Alkaptonuria: A study in Chemical Individuality , 1996, Nutrition reviews.

[21]  Randolph K. Taylor,et al.  Linkage and gene localization of hereditary spherocytosis (HS). , 1978, Blood.

[22]  J Peters,et al.  Chromosome maps of man and mouse. , 1981, Clinical genetics.

[23]  A. Feinberg,et al.  Hypomethylation distinguishes genes of some human cancers from their normal counterparts , 1983, Nature.

[24]  Further evidence for location of the spherocytosis gene on chromosome 8. , 1983, Annals of internal medicine.

[25]  M. Lyon,et al.  Chromosome maps of man and mouse , 1981, Clinical genetics.

[26]  M. Lyon,et al.  Chromosome maps of man and mouse II , 1984 .

[27]  R. Schmickel.  Contiguous gene syndromes: a component of recognizable syndromes. , 1986, The Journal of pediatrics.

[28]  M. Lyon,et al.  Chromosome maps of man and mouse, III. , 1987, Genomics.

[29]  Donna K. Harman,et al.  IRX: an information retrieval system for experimentation and user applications , 1988, SIGF.

[30]  M. Lyon,et al.  Chromosome maps of man and mouse. IV , 1989, Annals of human genetics.

[31]  Garrod's Inborn Factors in Disease , 1990 .

[32]  J. Leonard.  Garrod's Inborn Factors in Disease , 1990 .

[33]  J H Hartwig,et al.  Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring , 1990, The Journal of cell biology.

[34]  M. D'urso,et al.  Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28. , 1993, Genomics.

[35]  L. Rosenberg.  Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes , 1972, The Yale Journal of Biology and Medicine.

[36]  J. Haines,et al.  Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. , 1993, Science.

[37]  M. Pericak-Vance,et al.  Apolipoprotein E ∈4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases , 1993, The Lancet.

[38]  McKusick,et al.  Medical Genetics: A Self-Instruction Guide and Workbook Based on Mendelian Inheritance in Man , 1993 .

[39]  T. Dryja,et al.  Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. , 1994, Science.

[40]  J Piper,et al.  Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[41]  J. Naylor,et al.  Mendelian inheritance in man: A catalog of human genes and genetic disorders , 1996 .

[42]  J. Hurst,et al.  Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. , 1996, American journal of human genetics.

[43]  L. Secker-Walker.  Catalog of Chromosome Aberrations in Cancer , 1996, British Journal of Cancer.

[44]  P. Goodfellow.  A celebration and a farewell , 1997, Nature Genetics.

[45]  B. Johansson,et al.  A breakpoint map of recurrent chromosomal rearrangements in human neoplasia , 1997, Nature Genetics.

[46]  S. Antonarakis.  Recommendations for a nomenclature system for human gene mutations , 1998 .

[47]  B. Childs.  Genetic Medicine: A Logic of Disease , 1999 .

[48]  S. Antonarakis,et al.  Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion , 2000 .

[49]  S. Antonarakis,et al.  OMIM passes the 1,000-disease-gene mark , 2000, Nature Genetics.

[50]  Bethan E. Hoskins,et al.  Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder , 2001, Science.

[51]  Leena Peltonen,et al.  Dissecting Human Disease in the Postgenomic Era , 2001, Science.

[52]  S. Antonarakis,et al.  Nomenclature for the description of human sequence variations , 2001, Human Genetics.

[53]  Joseph H. Nadeau,et al.  Modifier genes in mice and humans , 2001, Nature Reviews Genetics.

[54]  J. Dallongeville,et al.  Glycerol kinase deficiency: Evidence for complexity in a single gene disorder , 2001, Human Genetics.

[55]  Robert J. Unwin,et al.  Human Hypertension Caused by Mutations in WNK Kinases , 2001, Science.

[56]  Ali G. Gharavi,et al.  Molecular Mechanisms of Human Hypertension , 2001, Cell.

[57]  C. Y. Yu,et al.  Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex. , 2002, American journal of human genetics.

[58]  Peter A. Jones,et al.  The fundamental role of epigenetic events in cancer , 2002, Nature Reviews Genetics.

[59]  Kenichi Harada,et al.  Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines , 2002, Oncogene.

[60]  N. E. Osselton,et al.  Caught in the Web of Words. James A. H. Murray and the Oxford English Dictionary , 2002 .

[61]  Mathew W. Wright,et al.  Guidelines for human gene nomenclature. , 2002, Genomics.

[62]  Alan F. Scott,et al.  Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders , 2002, Nucleic Acids Res..

[63]  A. Feinberg,et al.  Loss of IGF2 Imprinting: A Potential Marker of Colorectal Cancer Risk , 2003, Science.

[64]  D. Ray,et al.  Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency , 2003, Nature Genetics.

[65]  Frank W. Nicholas,et al.  Online Mendelian Inheritance in Animals (OMIA): a comparative knowledgebase of genetic disorders and other familial traits in non-laboratory animals , 2003, Nucleic Acids Res..

[66]  Peter A. Jones,et al.  Epigenetics in human disease and prospects for epigenetic therapy , 2004, Nature.

[67]  M. Konrad,et al.  Salt wasting and deafness resulting from mutations in two chloride channels. , 2004, The New England journal of medicine.

[68]  M. Ferguson-Smith,et al.  Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34 , 1976, Human Genetics.

[69]  A. Feinberg,et al.  The history of cancer epigenetics , 2004, Nature Reviews Cancer.

[70]  K. Becker.  The common variants/multiple disease hypothesis of common complex genetic disorders. , 2004, Medical hypotheses.

[71]  B. Rovin,et al.  The Influence of CCL 3 L 1 Gene – Containing Segmental Duplications on HIV-1 / AIDS Susceptibility , 2009 .

[72]  Problems in the naming of genes. , 2006, American journal of medical genetics. Part A.

[73]  D. Conrad,et al.  Global variation in copy number in the human genome , 2006, Nature.

[74]  Frédéric Morel,et al.  Hereditary pancreatitis caused by triplication of the trypsinogen locus , 2006, Nature Genetics.

[75]  M. Feingold.  The use of inappropriate, demeaning, and pejorative terminology to describe syndromes , 2006, American journal of medical genetics. Part A.

[76]  M. Ludman.  The use of inappropriate, demeaning, and pejorative terminology in gene nomenclature: A comment on Feingold , 2006, American journal of medical genetics. Part A.

[77]  Bba,et al.  CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene , 2005, Journal of Medical Genetics.

[78]  V. McKusick.  A 60-year tale of spots, maps, and genes. , 2006, Annual review of genomics and human genetics.

[79]  Stylianos E. Antonarakis,et al.  Mendelian disorders deserve more attention , 2006, Nature Reviews Genetics.

[80]  Pawel Stankiewicz,et al.  Genomic disorders : the genomic basis of disease , 2006 .

[81]  Enrico Petretto,et al.  Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans , 2006, Nature.

[82]  E. Boerwinkle,et al.  Multiple genes for essential-hypertension susceptibility on chromosome 1q. , 2007, American journal of human genetics.