GAS1, growth arrest specific 1, 2619

N. diseases: 88; N. variants: 0
Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.430 GeneticVariation disease BEFREE Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH. 21842183 2012
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.430 Biomarker disease BEFREE Clinical manifestations presented by these patients suggest that GAS1 could be considered a candidate locus for one of the types of human HPE. 20583177 2010
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.430 Biomarker disease CTD_human Gas1(-/-) mice exhibited microform HPE, including midfacial hypoplasia, premaxillary incisor fusion, and cleft palate, in addition to severe ear defects; however, gross integrity of the forebrain remained intact. 17525797 2007
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.430 Biomarker disease BEFREE Gas1(-/-) mice exhibited microform HPE, including midfacial hypoplasia, premaxillary incisor fusion, and cleft palate, in addition to severe ear defects; however, gross integrity of the forebrain remained intact. 17525797 2007
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.430 Biomarker disease HPO