Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.610 GeneticVariation BEFREE The presence of germline <italic>CDKN2A/B</italic> inactivation together with the presence of multiple anatomically, histologically, and genetically distinct astrocytic neoplasms, both with accompanying somatic loss of heterozygosity for the <italic>CDKN2A/B</italic> deletion, led to a diagnosis of familial melanoma-astrocytoma syndrome. 28699883

2018
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.610 GeneticVariation ORPHANET A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. 11136714

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.610 CausalMutation CLINVAR

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.610 Biomarker CTD_human