MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
0.540 AlteredExpression disease BEFREE Dental agenesis in this respect is believed to result from altered expression of one or more of these factors during initiation and early morphogenesis of the tooth germ, and the first actors identified were MSX1 and PAX9. 27491081 2016
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
0.540 GeneticVariation disease BEFREE Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth. 28040065 2016
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
0.540 AlteredExpression disease BEFREE PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis. 21111400 2011
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
0.540 Biomarker disease MGD Msx1 and Dlx5 act independently in development of craniofacial skeleton, but converge on the regulation of Bmp signaling in palate formation. 16330189 2006
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
0.540 Biomarker disease BEFREE MSX1 and PAX9 have been associated with tooth agenesis in mice and humans, but interestingly for humans, these genes are associated with specific missing teeth. 12598542 2003
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
0.540 Biomarker disease MGD Insertional mutation of the mouse Msx1 homeobox gene by an nlacZ reporter gene. 9256350 1997
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
0.540 Biomarker disease MGD Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. 7914451 1994
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
0.540 Biomarker disease CTD_human