FAS, Fas cell surface death receptor, 355

N. diseases: 754; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GermlineCausalMutation disease ORPHANET The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations. 22983577 2013
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 GermlineCausalMutation disease ORPHANET The majority of ALPS patients carry heterozygous germline (ALPS-FAS) or somatic mutations (ALPS-sFAS) of the TNFRSF6 gene coding for FAS. 21885602 2011
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 CausalMutation disease CGI
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 CausalMutation disease CGI
CUI: C3496549
Disease: Male Germ Cell Tumor
Male Germ Cell Tumor 		0.300 CausalMutation disease CGI
CUI: C1866119
Disease: Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IA 		0.130 CausalMutation disease CLINVAR
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation disease CLINVAR Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. 22237435 2012
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation disease CLINVAR Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. 10875918 2000
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation disease CLINVAR Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? 23407489 2013
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation disease CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157 2011
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation disease CLINVAR Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 10090885 1999
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation disease CLINVAR Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. 15459303 2004
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. 20360470 2010
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 9028321 1997
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. 24398331 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). 27060458 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Autoimmune lymphoproliferative syndrome: an update and review of the literature. 25086580 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? 10709732 2000
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. 21885602 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. 7539157 1995
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157 2011
CUI: C4016044
Disease: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC 		0.100 CausalMutation phenotype CLINVAR
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 SomaticCausalMutation disease ORPHANET The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations. 22983577 2013
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		1.000 SomaticCausalMutation disease ORPHANET The majority of ALPS patients carry heterozygous germline (ALPS-FAS) or somatic mutations (ALPS-sFAS) of the TNFRSF6 gene coding for FAS. 21885602 2011
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.330 SusceptibilityMutation disease ORPHANET FAS Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han Chinese. 26136352 2015