MNX1, motor neuron and pancreas homeobox 1, 3110

N. diseases: 113; N. variants: 9
Disease: Anorectal Malformations ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.310 Biomarker group GENOMICS_ENGLAND A previously unreported mutation in a Currarino syndrome kindred. 16906559 2006
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.310 GeneticVariation group BEFREE FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome. 14663834 2003