Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.180 GeneticVariation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.180 GeneticVariation CLINVAR

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.110 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824

2011

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.110 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534

2010

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.110 CausalMutation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.110 CausalMutation CLINVAR

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. 28384794

2017

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449

2015

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST. 23612575

2014

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. 23628597

2013

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR SDHA is a tumor suppressor gene causing paraganglioma. 20484225

2010

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR Risk of breast cancer in male BRCA2 carriers. 20587410

2010

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations. 19188187

2009

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations. 18855126

2009

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. 18042939

2007

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. 16141007

2005

Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR

Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation CLINVAR

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR

Entrez Id: 814
Gene Symbol: CAMK4
CAMK4
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation CLINVAR

Entrez Id: 7874
Gene Symbol: USP7
USP7
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation CLINVAR

Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation CLINVAR

Entrez Id: 80155
Gene Symbol: NAA15
NAA15
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 CausalMutation CLINVAR