MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: Seckel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.010 Biomarker disease BEFREE We propose that the microcephaly observed in patients with MCPH1 deficiencies is due to disruption of the ATR-BRCA1-Chk1 signaling pathway that is also disrupted in Seckel syndrome patients. 16217032 2005