FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767671406
rs767671406
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. 28499369 2017
dbSNP: rs767671406
rs767671406
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747 2016
dbSNP: rs767671406
rs767671406
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. 24994497 2014
dbSNP: rs767671406
rs767671406
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome. 24190151 2013
dbSNP: rs767671406
rs767671406
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. 20413710 2010
dbSNP: rs767671406
rs767671406
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 19802896 2010
dbSNP: rs767671406
rs767671406
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. 11100034 2000