Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.030 GeneticVariation BEFREE The majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. 31637524

2019
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.030 GeneticVariation BEFREE IHCT lesions are phenotypically similar to AVMs and contain the same somatic MAP2K1 or KRAS mutations, suggesting that IHCT is on the AVM spectrum. 31486960

2019
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.030 GeneticVariation BEFREE In summary, somatic mutations in MAP2K1 are a common cause of extracranial AVM. 28190454

2017