Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.530 Biomarker disease CTD_human Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. 18272690 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.530 Biomarker disease GENOMICS_ENGLAND
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.530 Biomarker disease GENOMICS_ENGLAND
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
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.310 Biomarker group PSYGENET A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis. 21901269 2012
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.310 Biomarker disease PSYGENET A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis. 21901269 2012
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.310 Biomarker group CTD_human Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. 18272690 2008
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder 		0.300 Biomarker disease CTD_human Sociability and motor functions in Shank1 mutant mice. 20868654 2011
CUI: C0026613
Disease: Motor Skills Disorders
Motor Skills Disorders 		0.300 Biomarker group CTD_human Sociability and motor functions in Shank1 mutant mice. 20868654 2011
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic 		0.300 Biomarker disease CTD_human Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. 18272690 2008
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding) 		0.300 Biomarker disease CTD_human Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. 18272690 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT