GIT2, GIT ArfGAP 2, 9815

N. diseases: 26; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 Biomarker disease BEFREE 890 sputum smear positive Cat II PTB patients were randomized to receive either six intra-dermal injections (2 + 4) of heat-killed MIP at a dose of 5 × 10<sup>8</sup> bacilli or placebo once in 2 weeks for 2 months. 28611374 2017
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 Biomarker disease BEFREE Ninety-eight patients had clinical features suggestive of pulmonary tuberculosis (PTB) and out of them, 22 were new smear positive PTB (CAT I DOTS), 48 smear positive re-treatment, defaulters and CAT I failure PTB (CAT II DOTS) and 28 new smear negative PTB (CAT III). 21237291 2011
CUI: C0011127
Disease: Pressure Ulcer
Pressure Ulcer 		0.010 Biomarker disease BEFREE Pressure ulcer Cat. II-IV incidence on the CuroCell S.A.M. PRO powered reactive air support surface in a high-risk population: A multicentre cohort study in 12 Belgian nursing homes. 31713351 2020
CUI: C0008495
Disease: Chorioamnionitis
Chorioamnionitis 		0.010 AlteredExpression phenotype BEFREE In this article, we report that GIT2 expression is lower in human myometrium and fetal membranes with term labor, and in preterm amnion with histological chorioamnionitis. 30915469 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 GeneticVariation group BEFREE Trp53<sup>FloxFlox</sup>;Kras<sup>G12D/+</sup>;Rosa26<sup>LSL-Luciferase/LSL-Luciferase</sup> (PKL) genetically engineered mice were used to develop autochthonous lung tumors with intratracheal delivery of adenoviral Cre recombinase. 30771521 2019
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia 		0.010 GeneticVariation disease BEFREE Of these SNPs, four (rs74416240 of TCHP, rs925368 of GIT2, rs7969300 of ATXN2, and rs12231744 of NAA25) and two (rs34902660 of SLC17A3 and rs1042127 of CDSN) were identified as novel genetic determinants of hypo-HDL- and hyper-LDL-cholesterolemia, respectively. 29879492 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 GeneticVariation disease BEFREE Genetic deletion of GIT2 prolongs functional recovery and suppresses chondrocyte differentiation in rats with rheumatoid arthritis. 28777475 2018
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.010 AlteredExpression group BEFREE Here we report that increased glucose catabolism through glycolysis and increased pyruvate kinase activity in c-MYC-driven liver tumors are associated with increased expression of both PKM1 and PKM2 isoforms and decreased expression of the liver-specific isoform of pyruvate kinase, PKL. 28630053 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Abundance of H19, GIT2, and CYTH3 in patient samples further suggests that H19 might be exploited as a biomarker for metastatic cells within breast tumors and perhaps as a therapeutic target to prevent metastasis. 28611183 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE GIT2-BRAF fusion has not been reported in the literature in any tumor. 29141672 2017
CUI: C0041834
Disease: Erythema
Erythema 		0.010 Biomarker phenotype BEFREE These analyses established that the most important drivers for Cat 1 Classification are (1) CO mean ≥ 3 (days 1-3) (severity) and (2) CO persistence on day 21 in the absence of severity, and those for Cat 2 classification are (3) CO mean ≥ 1 and (4) conjunctival redness mean ≥ 2. 26997338 2017
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		0.010 Biomarker disease BEFREE A novel GIT2-BRAF fusion in pilocytic astrocytoma. 29141672 2017
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		0.010 Biomarker disease BEFREE A novel GIT2-BRAF fusion in pilocytic astrocytoma. 29141672 2017
CUI: C0877173
Disease: Food aversion
Food aversion 		0.010 GeneticVariation disease BEFREE RNAi depletion of hsp-16.2, a cytosolic chaperone, and cyp-35A family reduced the aversion phenotype, which was further reduced in cat-2 mutants, suggesting that dopaminergic signal is indeed dominantly required for the caffeine-induced food aversion. 27697105 2017
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		0.010 Biomarker disease BEFREE A novel GIT2-BRAF fusion in pilocytic astrocytoma. 29141672 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 Biomarker group BEFREE Abundance of H19, GIT2, and CYTH3 in patient samples further suggests that H19 might be exploited as a biomarker for metastatic cells within breast tumors and perhaps as a therapeutic target to prevent metastasis. 28611183 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 Biomarker disease BEFREE EGF-stimulated activation of Rab35 regulates RUSC2-GIT2 complex formation to stabilize GIT2 during directional lung cancer cell migration. 27238570 2016
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE EGF-stimulated activation of Rab35 regulates RUSC2-GIT2 complex formation to stabilize GIT2 during directional lung cancer cell migration. 27238570 2016
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE EGF-stimulated activation of Rab35 regulates RUSC2-GIT2 complex formation to stabilize GIT2 during directional lung cancer cell migration. 27238570 2016
CUI: C0009319
Disease: Colitis
Colitis 		0.010 Biomarker disease BEFREE Finally, we show that the susceptibility of Git2-deficient mice to DSS-induced colitis depends on TLR signaling. 24879442 2014
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 GeneticVariation disease BEFREE This CAT2 haplotype appeared as an independent risk factor of arterial aging, similarly to previously identified factors such as age, systolic blood pressure, male, sex, tobacco use, hs-CRP, BMI and diabetes. 23340375 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 GeneticVariation group BEFREE This CAT2 haplotype appeared as an independent risk factor of arterial aging, similarly to previously identified factors such as age, systolic blood pressure, male, sex, tobacco use, hs-CRP, BMI and diabetes. 23340375 2013
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 Biomarker disease BEFREE We suggest that CAT2 might be a therapeutic target to prevent excess NO production in sepsis and possibly other human disease states, while leaving basal production unchanged. 12049618 2002
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 Biomarker disease BEFREE We suggest that CAT2 might be a therapeutic target to prevent excess NO production in sepsis and possibly other human disease states, while leaving basal production unchanged. 12049618 2002