Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Platelet Component Distribution Width Measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 AlteredExpression disease BEFREE Increased Eps15 homology domain 1 and RAB11FIP3 expression regulate breast cancer progression via promoting epithelial growth factor receptor recycling. 28215104 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE Rab11-FIP3 is a Rab11-binding protein that regulates breast cancer cell motility by modulating the actin cytoskeleton. 19327867 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE Our results suggest that: (a) an independent, amplified region defined by MLN 62 (also called CART1 or TRAF4) is located in 17q11-q12; (b) in addition to ERBB2, MLN 64 is a major target for the 17q12-q21 amplicon; and (c) these MLN genes could be of pathogenetic significance in breast cancer. 8752152 1996
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE Altogether, these observations indicate that CART1 may be involved in TNF-related cytokine signal transduction in breast carcinoma. 7592751 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 AlteredExpression disease BEFREE Increased Eps15 homology domain 1 and RAB11FIP3 expression regulate breast cancer progression via promoting epithelial growth factor receptor recycling. 28215104 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 Biomarker disease BEFREE Rab11-FIP3 is a Rab11-binding protein that regulates breast cancer cell motility by modulating the actin cytoskeleton. 19327867 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 Biomarker disease BEFREE Our results suggest that: (a) an independent, amplified region defined by MLN 62 (also called CART1 or TRAF4) is located in 17q11-q12; (b) in addition to ERBB2, MLN 64 is a major target for the 17q12-q21 amplicon; and (c) these MLN genes could be of pathogenetic significance in breast cancer. 8752152 1996
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.020 Biomarker group BEFREE Mutations in transcriptional co-activator genes-Cited2, p300, Cbp, Tfap2α, Carm1 and Cart1 result in NTDs in murine models, thus prompt us to investigate whether homologues of these genes are associated with NTDs in humans. 20932315 2010
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.020 Biomarker group BEFREE In genetic NTD models such as Cart1, splotch, Cited2, and crooked tail, and NTD induced by teratogens including valproic acid and fumonisins, the incidence of defects is reduced by maternal folic acid supplementation. 15800852 2005
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 AlteredExpression disease BEFREE EHD1, EGFR, CAV-1 and RAB11FIP3 expression levels were increased in human PTC. 30214560 2018
Secondary malignant neoplasm of lymph node
0.010 Biomarker disease BEFREE EGFR was only associated with lymph node metastasis (P=0.027) and RAB11FIP3 was not associated with any clinicopathological characteristics. 30214560 2018
CUI: C2242656
Disease: HBV coinfection
HBV coinfection
0.010 Biomarker disease BEFREE Lamivudine Monotherapy-Based cART Is Efficacious for HBV Treatment in HIV/HBV Coinfection When Baseline HBV DNA <20,000 IU/mL. 26745828 2016
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica
0.010 Biomarker disease BEFREE Among responsive mutants, folic acid supplementation reduces exencephaly and/or spina bifida aperta frequency in the Sp(2H), Sp, Cd, Cited2, Cart1, and Gcn5 mutants.Prevention ranges from 35 to 85%. 19117321 2009
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.010 Biomarker disease BEFREE Among responsive mutants, folic acid supplementation reduces exencephaly and/or spina bifida aperta frequency in the Sp(2H), Sp, Cd, Cited2, Cart1, and Gcn5 mutants.Prevention ranges from 35 to 85%. 19117321 2009
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.010 Biomarker disease BEFREE Cart-1 cDNA was recently cloned from a rat chondrosarcoma tumor and it encodes a protein containing a paired-like homeodomain that is selectively expressed in cartilage during early chondrocyte differentiation. 8756334 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE Cart-1 cDNA was recently cloned from a rat chondrosarcoma tumor and it encodes a protein containing a paired-like homeodomain that is selectively expressed in cartilage during early chondrocyte differentiation. 8756334 1996
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 Biomarker disease BEFREE Here we report the molecular cloning of the human Cart-1 cDNA from a HeLa cervical carcinoma cDNA library. 8756334 1996
CUI: C0702169
Disease: Acrania
Acrania
0.010 GeneticVariation disease BEFREE Here, we show that Cart1-homozygous mutant mice are born alive with acrania and meroanencephaly but die soon after birth-a phenotype that strikingly resembles a corresponding human syndrome caused by a neural tube closure defect. 8673125 1996
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 AlteredExpression phenotype BEFREE CART1 is specifically expressed by epithelial cells in breast carcinomas and metastases. 7592751 1995
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.010 AlteredExpression group BEFREE CART1 is specifically expressed by epithelial cells in breast carcinomas and metastases. 7592751 1995