Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.350 GeneticVariation ORPHANET Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma. 28592523

2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.350 GeneticVariation ORPHANET To our knowledge, this is the first report of a germline gross deletion of the <i>CDKN2A-CDKN2B</i> locus in an LFS family. 29263814

2016