Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.320 GeneticVariation disease BEFREE Genetic defects in the three SH3 and multiple ankyrin repeat domains (SHANK) genes (<i>SHANK1, SHANK2</i>, and <i>SHANK3</i>) are associated with multiple major neuropsychiatric disorders, including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BPD). 30505269 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.320 GeneticVariation disease BEFREE We found the T allele of the SHANK1 promoter variant rs3810280 to lead to significantly impaired auditory working memory as assessed with digit span (12.5 ± 3.6 vs. 14.8 ± 4.1, P < .001) in schizophrenia cases, applying strict Bonferroni correction for multiple testing. 21901269 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.320 Biomarker disease PSYGENET We found the T allele of the SHANK1 promoter variant rs3810280 to lead to significantly impaired auditory working memory as assessed with digit span (12.5 ± 3.6 vs. 14.8 ± 4.1, P < .001) in schizophrenia cases, applying strict Bonferroni correction for multiple testing. 21901269 2012