Number of diseases associated with ftp'-DDT, o, p'-DDT, and p, p'-D0E using the OMIM
and the CTD databases.
Disease Browser Provide bovine disease genes as query, disease name, OMIM
accession ID, or specific text.
Infantile malignant osteopetrosis (arOP; ARO; OMIM
259700) is an autosomal recessive disease manifesting with anaemia, thrombocytopenia, hepatosplenomegaly, visual impairment due to optic atrophy and deafness.
MetaCore enables concurrent visualization and analysis of gene expression, proteomics and metabolomics data in multiple formats including LocusLink, Genbank, RefSeq, All Affymetrix arrays tags, OMIM
, Unigene, SwissProt as well as other approved gene symbol IDs.
A global knowledge base of variant associations--that proactively collects genomic data from more than 10 sources including GeneReviews, GeneTests, NCBI, dbSNP, OMIM
, COSMIC, HGMD, SIFT, Polyphen, as well as knowledge specific to the laboratory's guidelines and protocols.
Other clinical syndromes rarely related to mutations in the pol [gamma] complex are mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE, OMIM
603041), (76,77) Charcot-Marie-Tooth disease, (78-80) male infertility, testicular cancer, idiopathic parkinsonism, premature ovarian failure and nucleoside reverse transcriptase inhibitors toxicity in patients infected with human immunodeficiency virus.
1 The high probe density provides broad coverage of constitutional, cancer, OMIM
and RefSeq genes on a single array and allows detection of gene-level, copy-neutral LOH, uniparental isodisomy, and regions identical by descent.
It remains to be seen if this method can consistently differentiate GM1 gangliosidosis (OMIM
#230500) from mucopolysaccharidosis type IVB (Morquio disease, OMIM
#253010) and Sandhoff disease (OMIM
#268800) from Tay-Sachs disease due to AB and B1 variants (OMIM
#272750 and #272800), as well as different subtypes of Gaucher disease (OMIM
#230800, #230900, #230100, and others).
606 Not specified Unknown information on gene functions was taken from the OMIM
database, NCI, USA.
For more information on any of the genes mentioned, excellent resources include the National Center for Biotechnology's (NCBI's) OMIM
Web site at http://www.
On the basis of these data, we used a comprehensive in silico approach to determine connections of different disease entities and associations (Table 2, OMIM
[Online Mendelian Inheritance in Man]) with a common denominator glomerular cyst/GCK.
The current report on HCRTR2 addresses the above problem: this report is a compilation of manually curated information that is derived from the following process: - Information is extracted from: -- Public domain databases such as SwissProt, UniProt, Entrez PubMed, OMIM
, etc -- In-house databases -- Curated information from journal articles and reviews -- Chemistry information from patents -- Company websites