Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). 27060458

2016
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. 24398331

2014
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Autoimmune lymphoproliferative syndrome: an update and review of the literature. 25086580

2014
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. 21885602

2011
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157

2011
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. 20360470

2010
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? 10709732

2000
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 9028321

1997
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. 7539157

1995