TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.120 AlteredExpression phenotype BEFREE Both models also showed behavioral abnormalities in anxiety, social interaction and learning assays, which correlated with Tsc2 protein levels as well. 22752306 2012
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.120 Biomarker phenotype BEFREE This finding, coupled with the mild physical expression of TSC in some family members, supports a hypothesis that the TSC2 gene may present phenotypically as mild skin signs and significant behavioural problems. 7837252 1994
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.120 Biomarker phenotype HPO