Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 GeneticVariation disease BEFREE This study was performed to determine the frequency of inactivation and clinical correlates in non-small cell lung cancer (NSCLC) of three known tumor suppressor genes [TSGs; RB, MTS1/CDKN2 (p16), and p53] and various regions of 3p loss of heterozygosity (LOH) as other major potential TSG sites. 10213214 1999
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker disease GENOMICS_ENGLAND Twisted gastrulation can function as a BMP antagonist. 11260717 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE TSG genetic lesions, such as BRCA1 in breast cancer and p53 in Li-Fraumeni Syndrome, have been identified in both sporadic and heritable human endocrine tumors. 11414476 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 Biomarker disease BEFREE TSG genetic lesions, such as BRCA1 in breast cancer and p53 in Li-Fraumeni Syndrome, have been identified in both sporadic and heritable human endocrine tumors. 11414476 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE TSG genetic lesions, such as BRCA1 in breast cancer and p53 in Li-Fraumeni Syndrome, have been identified in both sporadic and heritable human endocrine tumors. 11414476 2001
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.010 Biomarker disease BEFREE TSG genetic lesions, such as BRCA1 in breast cancer and p53 in Li-Fraumeni Syndrome, have been identified in both sporadic and heritable human endocrine tumors. 11414476 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE These 3p genetic alterations lead to the conclusion that the short arm of human chromosome 3 contains several tumor suppressor gene(s) (TSG(s)). 12362274 2002
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 Biomarker group BEFREE To ascertain the involvement of human chromosome 3p and its established critical TSG regions in various epithelial malignancies, 21 polymorphic and 2 nonpolymorphic 3p markers were allelotyped in nonpapillary RCC, NSCLC, CC and BC from a total of 184 patients. 12124802 2002
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 Biomarker disease BEFREE It is clear now that genetic and epigenetic abnormalities of several genes residing in chromosome region 3p are important for the development of lung cancers but it is still obscure how many of them exist and which of the numerous candidate TSGs are the key players in lung cancer pathogenesis. 12362274 2002
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 Biomarker disease BEFREE It is clear now that genetic and epigenetic abnormalities of several genes residing in chromosome region 3p are important for the development of lung cancers but it is still obscure how many of them exist and which of the numerous candidate TSGs are the key players in lung cancer pathogenesis. 12362274 2002
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 Biomarker disease BEFREE It is clear now that genetic and epigenetic abnormalities of several genes residing in chromosome region 3p are important for the development of lung cancers but it is still obscure how many of them exist and which of the numerous candidate TSGs are the key players in lung cancer pathogenesis. 12362274 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE The smallest region homozygously deleted in 3p21.3C was located between D3S1568 (CACNA2D2 gene) and D3S4604 (SEMA3F gene) and contains 17 genes previously defined as lung cancer candidate Tumor suppressor genes (TSG(s)). 12771950 2003
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 GeneticVariation disease BEFREE Although methylation of one or two genes could be seen in both nontumor and cirrhotic livers, 53% of the HCC cases had three or more TSG promoters methylated, in comparison to 0% in nontumor liver and 13% in cirrhosis (P = 0.001). 12937151 2003
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 Biomarker disease BEFREE The smallest region homozygously deleted in 3p21.3C was located between D3S1568 (CACNA2D2 gene) and D3S4604 (SEMA3F gene) and contains 17 genes previously defined as lung cancer candidate Tumor suppressor genes (TSG(s)). 12771950 2003
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 Biomarker disease BEFREE The smallest region homozygously deleted in 3p21.3C was located between D3S1568 (CACNA2D2 gene) and D3S4604 (SEMA3F gene) and contains 17 genes previously defined as lung cancer candidate Tumor suppressor genes (TSG(s)). 12771950 2003
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 Biomarker disease BEFREE The smallest region homozygously deleted in 3p21.3C was located between D3S1568 (CACNA2D2 gene) and D3S4604 (SEMA3F gene) and contains 17 genes previously defined as lung cancer candidate Tumor suppressor genes (TSG(s)). 12771950 2003
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 Biomarker disease BEFREE We conclude that RFP2, c13ORF1, and a chromosome 13-specific ST13-like gene, FAM10A4, are the most likely candidates for such a type of B-CLL TSG. 14499696 2003
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 GeneticVariation disease BEFREE Although methylation of one or two genes could be seen in both nontumor and cirrhotic livers, 53% of the HCC cases had three or more TSG promoters methylated, in comparison to 0% in nontumor liver and 13% in cirrhosis (P = 0.001). 12937151 2003
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 Biomarker disease BEFREE The results strongly suggest that 3p21.3T and 3p21.3C regions harbor genes involved in the origin and/or development of CCs and imply that those genes might be multiple TSG(s). 12771950 2003
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.010 GeneticVariation disease BEFREE Although methylation of one or two genes could be seen in both nontumor and cirrhotic livers, 53% of the HCC cases had three or more TSG promoters methylated, in comparison to 0% in nontumor liver and 13% in cirrhosis (P = 0.001). 12937151 2003
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 Biomarker disease BEFREE We conclude that RFP2, c13ORF1, and a chromosome 13-specific ST13-like gene, FAM10A4, are the most likely candidates for such a type of B-CLL TSG. 14499696 2003
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.320 Biomarker disease CTD_human The mammalian twisted gastrulation gene functions in foregut and craniofacial development. 15013800 2004
CUI: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities 		0.300 Biomarker group CTD_human The mammalian twisted gastrulation gene functions in foregut and craniofacial development. 15013800 2004
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		0.300 Biomarker disease CTD_human The mammalian twisted gastrulation gene functions in foregut and craniofacial development. 15013800 2004
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.300 Biomarker disease CTD_human The mammalian twisted gastrulation gene functions in foregut and craniofacial development. 15013800 2004