Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.520 Biomarker CLINGEN This may be the first patient clinically diagnosed with NSML, caused by a mutation in MAP2K1. 25423878

2015
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.520 Biomarker CLINGEN The RASopathies. 23875798

2013