MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: PARIETAL FORAMINA 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893896
rs104893896
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868599
Disease:
PARIETAL FORAMINA 1 		0.800 GeneticVariation UNIPROT Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. 10767351 2000
dbSNP: rs104893896
rs104893896
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868599
Disease:
PARIETAL FORAMINA 1 		0.800 GeneticVariation UNIPROT Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. 10742103 2000
dbSNP: rs104893896
rs104893896
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
CUI: C1868599
Disease:
PARIETAL FORAMINA 1 		A 0.800 CausalMutation CLINVAR