FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931246
Disease: Potocki-Lupski syndrome
Potocki-Lupski syndrome
0.410 Biomarker disease BEFREE Comparison of the duplicated segment in patients with Potocki-Lupski syndrome and the renal phenotype and the syntenic duplicated region in the mouse model allowed us to suggest a 0.285 Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication. 22639462 2012
CUI: C2931246
Disease: Potocki-Lupski syndrome
Potocki-Lupski syndrome
0.410 GeneticVariation disease CLINVAR
CUI: C2931246
Disease: Potocki-Lupski syndrome
Potocki-Lupski syndrome
0.410 CausalMutation disease CLINVAR
CUI: C2931246
Disease: Potocki-Lupski syndrome
Potocki-Lupski syndrome
0.410 Biomarker disease CTD_human