首先收到【2】,来源是【2】 【1】中有描述: You can also get those SNPs with an OMIM ID number by downloading from the dbSNP FTP site: the OmimVarLocusIdSNP table contains the information you need for your organisim of interest (human, in this case). This table is located in your orga...
importscrapyclassOmimcrawlerItem(scrapy.Item):# define the fields for your item here like:# name = scrapy.Field()# http://omim.org/entry/604370# ICD+: SNOMEDCT, ORPHA, Disease Ontologysnomedct_ids=scrapy.Field()orpha_ids=scrapy.Field()do_ids=scrapy.Field()# Titleomim_url=scrapy.Field(...
omim_ids=[re.findall(r'\((\d+)\)',line)forlineinfifline.startswith('chr') ] self.start_urls=['{0}{1}'.format(URL_BASE,int(omim[0]) )foromiminomim_idsifomim] # self.start_urls = ['https://www.omim.org/entry/131244'] ...
基因病變OMIM基因/位點發現率基因位置 1q21.2缺失或重覆-multiple >95% 1q21.2 1q41-q42片段缺失-~99% 1q41-q42 2q22.3缺失症候群-multiple ~99% 2q22.3 2q37缺失605314; 600395HDAC4, GPC1>95% 2q37 3q29片段缺失症候群609425 multiple >95% 3q29 5q21.1-q31.2缺失症候群 ->95% 5q21.1...
The presence of this organ in different species of whalefish could provide insights into intrafamilial relationships, and further investigations are needed to understand its function in juvenile and male cetomimids.doi:10.1007/s10228-023-00932-2Kimura, Katsuya...
If instead of an OMIM id you are interested in a specific list of genes, you can use thevargen_customfunction with a list of ensembl gene ids. This take the same input as vargen_pipeline (except the omim id) and follow the same workflow (variants on genes, promoters, gtex and gwas)....
IDS Uncertain Xq28 甲髕骨症候群 161200 LMX1B ~1-5% have a detectable deletion 9q33.3 肾消耗病,肾结核 256100 NPHP1 60-70% homozygous deletion 2q13 努南氏症候群;諾曼式症候群 163950 PTPN11 Precise detection rate unknown 12q24.13
Nearly all but the most basal theropods,Eoraptor lunensisandHerrerasaurus ischigualastensis, have an ossified furcula including coelophysids (Downs, 2000; Tykoski et al., 2002; Carrano et al., 2005), allosauroids (Chure and Madsen, 1996), tyrannosaurids (Makovicky and Currie, 1998; Larson...
The kainoids are important tools in the battle against Alzheimer's disease, and we collaborate with several pharmaceutical companies (mainly through CASE awards).We aim to use reactions we have discovered and developed within the group, such as our dearomatising cyclisation and rearrangement ...
The current cytotoxic targets include dichlorolissoclimide, tedanolide and 13-deoxytedanolide, aplysiapyranoids A-D, discodermide, dysidiolide, sclerophytin A, cylindramide A, and halomon and its alkene derivatives. The antiviral compounds are oxetanocin A and its analogues, both the ...