Dtabase about adrenoleukodystrophy, a progressive, genetic disorder, which affects the adrenal glands and the white matter of the nervous system.
http://www.esid.org/

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.
http://www.humgen.rwth-aachen.de/

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.
http://projects.tcag.ca/autism/

This database contains information on familial hypertrophic cardiomyopathy (FHC)-associated mutations and related data.
http://www.angis.org.au/Databases/Heart/heartbreak.html

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.
http://www.le.ac.uk/genetics/collagen/

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.
http://www.ncbi.nlm.nih.gov/gap

Gene mutation database about deafness, provided by the Harvard Medical School, Center for Hereditary Deafness.
http://hearing.harvard.edu/db/genelist.htm

Pox genome database.
http://bio.dfci.harvard.edu/epipox/

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).
http://www.FH-HUS.org

This database is a repository of the genetic variations identified and published in the field of inherited arrhythmogenic diseases and cardiac ion channels.
http://www.fsm.it/cardmoc/

Genes and Disease is a collection of articles that discuss genes and the diseases that they cause.
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd

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.
http://www.cmbi.ru.nl/GeneSeeker/

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.
http://gold.tugraz.at

Database about human hemoglobin variants and thalassemias.
http://globin.cse.psu.edu/globin/hbvar/

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:

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.
http://research.nhgri.nih.gov/scid/

Informations about the Familial Mediterranean Fever and hereditary autoinflammatory diseases.
http://fmf.igh.cnrs.fr/infevers/

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.
http://bioinf.uta.fi/KinMutBase/

Database about mutations and polymorphisms associated with Lafora progressive myoclonus epilepsy.
http://projects.tcag.ca/lafora/

Database about genes involved in the pathogenesis of Progressive Myoclonus Epilepsy (PME) of the Lafora type.
http://projects.tcag.ca/lafora/

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.
http://www.nlm.nih.gov/archive/20061212/mesh/jablonski/syndrome_toc/toc_a.html

The database contains published mutations and polymorphisms in the NCL genes together with unpublished data included with permission.
http://www.ucl.ac.uk/ncl/

Database about genes involved in obesity.
http://obesitygene.pbrc.edu/

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.
http://www.pahdb.mcgill.ca/

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.
http://www.pathbase.net/

Database about the Genome of the Malaria causing Plasmodium falciparum.
http://www.tigr.org/tdb/edb2/pfa1/htmls/

PGDB is a database of human genes related to the prostate and prostatic diseases.
http://www.urogene.org/pgdb/

Database about nucleotide variation found in the PHEX gene, the majority of which are found in patients with X-linked hypophosphatemia.
http://www.phexdb.mcgill.ca/

Database about nucleotide variation found in the PHEX gene, the majority of which are found in patients with X-linked hypophosphatemia.
http://www.phexdb.mcgill.ca/

Database about the Genome of Mycobacterium tuberculosis.
http://tuberculist.epfl.ch/