MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia
0.110 Biomarker disease BEFREE A single-strand conformation analysis (SSCA) mutation screen of the coding sequences of TFAP2alpha and MSX2 was performed for 204 nonsyndromic NTD patients including cases of anencephaly (n = 10), encephalocele (n = 8), and spina bifida aperta, SBA (n = 183). 11320527 2001
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia
0.110 Biomarker disease HPO