ITSN2, intersectin 2, 50618

N. diseases: 31; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.210 Biomarker group MGD
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.100 GeneticVariation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 Biomarker disease CTD_human Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF. 18925433 2009
CUI: C0027643
Disease: Neoplasm Recurrence, Local
Neoplasm Recurrence, Local 		0.300 Biomarker phenotype CTD_human Expression profiling identifies genes that predict recurrence of breast cancer after adjuvant CMF-based chemotherapy. 18925433 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.300 Biomarker disease CTD_human Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF. 18925433 2009
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human Expression profiling identifies genes that predict recurrence of breast cancer after adjuvant CMF-based chemotherapy. 18925433 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.300 Biomarker group CTD_human Expression profiling identifies genes that predict recurrence of breast cancer after adjuvant CMF-based chemotherapy. 18925433 2009
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human Expression profiling identifies genes that predict recurrence of breast cancer after adjuvant CMF-based chemotherapy. 18925433 2009
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		0.300 Biomarker disease CTD_human Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. 24097067 2013
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.300 Biomarker disease CTD_human Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. 24097067 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 Biomarker disease BEFREE SWAP-200, as an alternative diagnostic instrument to self-report measures, is able to reveal the higher prevalence of schizotypal traits in siblings of patients with schizophrenia, suggesting its possible use as a complementary instrument for the assessment of schizophrenia. 24094118 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0031212
Disease: Personality Disorders
Personality Disorders 		0.030 Biomarker group BEFREE The Shedler-Westen Assessment Procedure (SWAP-200) was used to assess personality disorders and levels of psychological functioning in a clinical sample (N = 88). 28645076 2017
CUI: C0031212
Disease: Personality Disorders
Personality Disorders 		0.030 GeneticVariation group BEFREE Furthermore, we found that only 16% of our sample presented a personality disorder, while 50% showed a high level of functioning according to the SWAP-200 scales. 28210932 2017
CUI: C0686346
Disease: Gender Dysphoria
Gender Dysphoria 		0.020 GeneticVariation phenotype BEFREE The authors review, one by one, the SWAP-200 items related to these areas, and, relying on their clinical experience and on scientific literature on Gender Dysphoria, they propose recommendations for making personality diagnoses meaningful. 28238165 2017
CUI: C0686346
Disease: Gender Dysphoria
Gender Dysphoria 		0.020 GeneticVariation phenotype BEFREE Forty-four individuals diagnosed with gender identity disorder (now gender dysphoria), 28 male-to-female and 16 female-to-male, were evaluated using the Shedler-Westen assessment procedure-200 (SWAP-200) to assess personality traits and disorders; the adult attachment interview was used to evaluate their attachment state-of-mind. 28210932 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 Biomarker disease BEFREE In addition, the SWAP Borderline PD Scale and the Dysphoric: Emotionally dysregulated Q-factor emerge as significant in predicting depression. 28316575 2017
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 Biomarker disease BEFREE In addition, the SWAP Borderline PD Scale and the Dysphoric: Emotionally dysregulated Q-factor emerge as significant in predicting depression. 28316575 2017
CUI: C0017250
Disease: Psychosexual identity disorder
Psychosexual identity disorder 		0.010 GeneticVariation group BEFREE Forty-four individuals diagnosed with gender identity disorder (now gender dysphoria), 28 male-to-female and 16 female-to-male, were evaluated using the Shedler-Westen assessment procedure-200 (SWAP-200) to assess personality traits and disorders; the adult attachment interview was used to evaluate their attachment state-of-mind. 28210932 2017
CUI: C0085635
Disease: Photopsia
Photopsia 		0.010 Biomarker phenotype BEFREE The respective r (linear) and R (quadratic) for HFA SITA (III), HFA FULL (III), HFA FULL (I), SWAP, Flicker, and Matrix were (0.40, 0.50), (0.43, 0.53), (0.44, 0.46), (0.51, 0.51), (0.33, 0.34), and (0.52, 0.52). 29045331 2017
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 Biomarker phenotype BEFREE In addition, the SWAP Borderline PD Scale and the Dysphoric: Emotionally dysregulated Q-factor emerge as significant in predicting depression. 28316575 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.210 Biomarker group BEFREE Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). 29773874 2018
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. 29273806 2018