MNX1, motor neuron and pancreas homeobox 1, 3110

N. diseases: 113; N. variants: 9
Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.020 AlteredExpression disease BEFREE Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3. 15211664 2004
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.020 GeneticVariation disease BEFREE Molecular analysis confirmed hemizygosity for the SHH and HLXB9 genes, which are likely to be responsible for the HPE and sacral phenotypes, respectively. 10852374 2000