NEUROD1, neuronal differentiation 1, 4760

N. diseases: 135; N. variants: 8
Disease: Saethre-Chotzen Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.050 Biomarker disease BEFREE Haploinsufficiency of TWIST1, a basic helix-loop-helix transcription factor is responsible for SCS. 28220539 2018
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.050 Biomarker disease BEFREE Genetic mutations of Twist, a basic helix-loop-helix transcription factor, induce premature fusion of cranial sutures in Saethre-Chotzen syndrome (SCS). 17003487 2006
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.050 GeneticVariation disease BEFREE Autosomal dominant mutations in the gene encoding the basic helix-loop-helix transcription factor Twist1 are associated with limb and craniofacial defects in humans with Saethre-Chotzen syndrome. 15735646 2005
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.050 Biomarker disease BEFREE Mutations in the coding region of the TWIST gene (encoding a basic helix-loop-helix transcription factor) have been identified in some cases of Saethre-Chotzen syndrome. 9792856 1998
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.050 Biomarker disease BEFREE Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166 1997