Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.030 GeneticVariation group BEFREE Here we present the case of a 60-year-old man with radiation-associated MDS (r-MDS) carrying chromosome abnormalities, including t(8;11)(p11;p15) and del(1)(p22p32). 19380029 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.030 GeneticVariation group BEFREE Cytogenetic analysis of low-grade chondrosarcoma in a patient with Ollier disease (multiple enchondromatosis) revealed an interstitial deletion, del(1)(p11p31.2), as the only chromosome abnormality. 9723029 1998
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.030 Biomarker group BEFREE Interestingly, the chromosome abnormality of del(1)(p22----pter) near the region of 1p21, where the amylase gene was assigned, was noticed in as many as 76% of KMS-12-PE cells. 2479409 1989