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X-linked Adrenoleukodystrophy Database

Dtabase about adrenoleukodystrophy, a progressive, genetic disorder, which affects the adrenal glands and the white matter of the nervous system.

Mutation Database - Autosomal Recessive Polycystic Kidney Disease (ARPKD / PKHD1)"  info

Autosomal Recessive Polycystic Kidney Disease (ARPKD) or Polycystic Kidney and Hepatic Disease 1 (PKHD1) is an important cause of childhood renal- and liver-related morbidity and mortality with a proposed incidence of 1:20,000 - 1:40,000 live births.
This Database lists the mutations and polymorphisms of PKHD1.

The Autism Chromosome Rearrangement Database

Database of chromosomal breakpoints and other genomic features related to autism, provided by the canadian Centre for Applied Genomics and The Hospital for Sick Children in Toronto.

Familial Hypertrophic Cardiomyopathy / DNA Mutation Database"  info

This database contains information on familial hypertrophic cardiomyopathy (FHC)-associated mutations and related data.

Database of Human Type I and Type III Collagen Mutations

This database aims to record all published accounts of mutations in the genes encoding human collagen types I and III. Mutations of these collagen types result predominantly in osteogenesis imperfecta and Ehlers-Danlos syndrome type IV respectively.

database of Genotypes and Phenotypes (dbGaP)

The database of Genotypes and Phenotypes (dbGaP) was developed to archive and distribute the results of studies that have investigated the interaction of genotype and phenotype. Such studies include genome-wide association studies, medical sequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

Deafness Gene Mutation Database

Gene mutation database about deafness, provided by the Harvard Medical School, Center for Hereditary Deafness.

Pox Database

Pox genome database.

Factor H Associated HUS Mutation Database"  info

The Factor H Associated HUS Mutation Database is a database of mutations within the human complement Factor H protein that are associated with Haemolytic Uraemic Syndrome (HUS).

Gene Connection for the Heart

This database is a repository of the genetic variations identified and published in the field of inherited arrhythmogenic diseases and cardiac ion channels.


Genes and Disease is a collection of articles that discuss genes and the diseases that they cause.

GeneSeeker"  info

GeneSeeker is a database for the identification of genes underlying human genetic disorders. This requires the combination of data related to cytogenetic localization, phenotypes and expression patterns, to generate a list of candidate genes.

Genomics of Lipid-associated Disorders Database

The GOLD.db was developed to address the need to integrate disparate information on the function and properties of genes and their protein products that are particularly relevant to the biology, diagnosis management, treatment, and prevention of lipid-associated disorders including non-insulin dependent diabetes, various hyperlipidemias, high blood pressure and atherosclerosis.

Database of Human Hemoglobin Variants and Thalassemias"  info

Database about human hemoglobin variants and thalassemias.

HCV Databases"  info

The Hepatitis C Virus (HCV) database project is funded by the Division of Microbiology and Infectious Diseases of the National Institute of Allergies and Infectious Diseases (NIAID). The project comprises two databases:

  • HCV sequence database
  • HCV immunology database

  • X-linked SCID Mutation Database

    X-linked severe combined immunodeficiency (XSCID or X-SCID) is an immune disorder caused by mutations in the X-linked gene IL2RG, which encodes the common gamma chain (c) of the lymphocyte receptors for interleukin-2 (IL-2) and many other cytokines. A database of human XSCID mutations (IL2RGbase) has been assembled. Information on new mutations may be submitted online.

    Repertory of Familial Mediterranean Fever and Hereditary Autoinflammatory Disorders Mutations"  info

    Informations about the Familial Mediterranean Fever and hereditary autoinflammatory diseases.

    Registry of Disease-causing Mutations in Protein Kinase Domains"  info

    KinMutBase is a registry of mutations in human protein kinases related to disorders. Kinases are essential cellular signaling molecules, in which mutations can lead to diseases, including immunodeficiencies, cancers and endocrine disorders.

    The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database

    Database about mutations and polymorphisms associated with Lafora progressive myoclonus epilepsy.

    Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database"  info

    Database about genes involved in the pathogenesis of Progressive Myoclonus Epilepsy (PME) of the Lafora type.

    Multiple Congenital Anomaly / Mental Retardation"  info

    This database has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information which, because of space the limitations of the printed form, is usually limited or completely omitted in the existing reference sources.

    Neuronal Ceroid Lipofuscinoses Mutation Database

    The database contains published mutations and polymorphisms in the NCL genes together with unpublished data included with permission.

    Obesity Gene Map Database"  info

    Database about genes involved in obesity.

    Phenylalanine Hydroxylase Locus Knowledgebase"  info

    PAHdb is an locus-specific database for mutations in the human phenylalanine hydroxylase gene (symbol PAH) and the associated phenotypes at the levels of protein, metabolites and organism.

    European Mutant Mouse Pathology Database"  info

    Pathbase is a database that stores images of the abnormal histology associated with spontaneous and induced mutations of both embryonic and adult mice including those produced by transgenesis, targeted mutagenesis and chemical mutagenesis. Images of normal mouse histology and strain-dependent background lesions are also available.
    Produced by the Department of Anatomy, University of Cambridge.

    The Plasmodium falciparum Genome Database

    Database about the Genome of the Malaria causing Plasmodium falciparum.

    Human Prostate Gene DataBase"  info

    PGDB is a database of human genes related to the prostate and prostatic diseases.

    PHEX Locus Database"  info

    Database about nucleotide variation found in the PHEX gene, the majority of which are found in patients with X-linked hypophosphatemia.

    PHEX Locus Database"  info

    Database about nucleotide variation found in the PHEX gene, the majority of which are found in patients with X-linked hypophosphatemia.


    Database about the Genome of Mycobacterium tuberculosis.