AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Cyclocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		0.010 Biomarker disease BEFREE In conclusion, the map location and the homology to a gene family involved in a large variety of biological processes including signal transduction and development make PWP2H an intriguing candidate for EPM1 as well as for APECED (autoimmune polyglandular disease) and HPE1 (holoprosencephaly-1) that also map in this region of chromosome 21. 8893822 1996