The data consists of 23857 genes possessing 51388 interaction edges. The SNP table was constructed using data obtained from the literature and OMIM database by screening only those that were associated with the NDDs. The gene ontology associated with the ndnDGN was acquired through a MATLAB script...
In X-SCID fully HLA-matched sibling or family donor HSCT without any conditioning is successful in > 95%, however with frequent failure of donor B cell engraftment [49]. By contrast, history of gene therapy in X-SCID is very controversial [50]. JAK3 (Janus kinase 3) defect (OMIM 600802...
To expand the use of information from GARD for biomedical research in rare diseases, we previously developed the NGKG, [17] a knowledge graph that integrated data from GARD and other well-known rare disease related resources including Orphanet, [18] OMIM, [19] MONDO, [20] and curated ...
Screening of ALD targets The GeneCards (https://www.genecards.org/) [28], DisGeNET (https://www.disgenet.org/) [29] and OMIM (https://omim.org/) [30] databases were used to search for disease targets using the keyword “alcoholic liver disease”. Retrieved on February 10, 2022. The...
A search through the seabass genome annotation files identified a total of 36 genes within the above genomic region containing the QTL (Table2; Fig.3C). Based on literature searches, BLAST2GO function annotations, KEGG pathway analysis as well as searches in the GeneCards and OMIM databases, ...
To submit a request for more than one variant, data can be uploaded, pasted or given via URL and options selected using a simple online form. A limited set of the VEP’s most commonly used plugins is available to use via the web interface. Requests are processed by a resource management...
This strategy allows storing identifiers for a wide range of resources: UniProt, ChEBI, Ensembl, miRBase, GenBank/EMBL/DDBJ, RefPep, RefSeq, EntrezGene, OMIM, InterPro, Affymetrix, Agilent, KEGG Compound, Illumina, etc. Therefore, in the first part of the analysis, the main requirement is ...
Fabry disease (FD, OMIM 301500) [1,2] is a devastating, progressive inborn error of metabolism with, particularly in the early stages, important roles being played by cellular dysfunction and microvascular pathology induced by lysosomal glycosphingolipid deposition [3]. Absent or deficient activity...
PROM1/Prom1genes are located on chromosome 4 and 5 in humans and mice, respectively (see also Online Mendelian Inheritance in Man (OMIM) entry number 604365). The organization of these genes and of thePROM2genes (OMIN 617150) is highly conserved in terms of exon–intron boundaries, across ...
Hence, validating the relevance of these in the context of Asian Indian population will require controlled studies in a cohort representative of the Indian subcontinent. Besides assessing the cSNPs using SNPedia and OMIM, we performed a comprehensive assessment of predicted genetic risk of the SAIF ...