GAS1, growth arrest specific 1, 2619

N. diseases: 88; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 Biomarker disease CTD_human Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. 17525797 2007
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		0.500 Biomarker disease CTD_human Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. 17525797 2007
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.500 Biomarker disease CTD_human Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. 17525797 2007
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET
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 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 HPO
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: C0078982
Disease: Arhinencephaly
Arhinencephaly 		0.300 Biomarker disease CTD_human Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. 17525797 2007
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease BEFREE As human GAS1 maps to chromosome 9q21.3-q22, a region previously associated with nonsyndromic cleft palate and congenital deafness, our results establish GAS1 as a potential locus for several human craniofacial malformations. 17525797 2007
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease HPO
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.100 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO