Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.320 GeneticVariation disease BEFREE Surprisingly, minimal evidence for alterations of TWSG1 was found, suggesting that sequence alterations of TWSG1 are neither a common direct cause nor a frequent modifying factor for human HPE pathologies. 21227728 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.320 Biomarker disease BEFREE Mice deficient in TWSG1 have abnormal forebrain development manifesting as holoprosencephaly. 20493240 2010
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.320 Biomarker disease CTD_human The mammalian twisted gastrulation gene functions in foregut and craniofacial development. 15013800 2004