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: 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: 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: 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: 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: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.210 Biomarker group MGD
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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
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
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.100 GeneticVariation disease CLINVAR
CUI: C0031212
Disease: Personality Disorders
Personality Disorders
0.030 Biomarker group BEFREE Personality and Personality Disorders in Medication-Overuse Headache: A Controlled Study by SWAP-200. 31281555 2019
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: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
0.010 GeneticVariation group BEFREE They showed lower traits of the SWAP-200's cluster A and B disorders than SUD and PD patients, who presented more severe levels of personality impairment. 31281555 2019
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal
0.010 Biomarker disease BEFREE RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst. 30767316 2019
CUI: C0302527
Disease: Pathological personality NOS
Pathological personality NOS
0.010 Biomarker disease BEFREE Eighty-eight MOH patients have been compared with two clinical populations including 99 patients with substance use disorder (SUD) and 91 with PDs using the Shedler-Westen Assessment Procedure-200 (SWAP-200), a clinician-report tool that assesses both normal and pathological personality. 31281555 2019
CUI: C0522254
Disease: Analgesic Overuse Headache
Analgesic Overuse Headache
0.010 GeneticVariation disease BEFREE Eighty-eight MOH patients have been compared with two clinical populations including 99 patients with substance use disorder (SUD) and 91 with PDs using the Shedler-Westen Assessment Procedure-200 (SWAP-200), a clinician-report tool that assesses both normal and pathological personality. 31281555 2019