Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 GeneticVariation disease BEFREE The number of expressed CT genes was significantly higher in seminomas (P = 3.48 × 10<sup>-13</sup> ) which were characterized by frequent mutations in driver genes (KIT, KRAS and NRAS). 31070303 2019
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 GeneticVariation disease BEFREE Activating c-KIT mutations (exons 11 and 17) are found in 10-40% of testicular seminomas, the majority being missense point mutations (codon 816). 22937135 2012
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 AlteredExpression disease BEFREE This study shows that expression of p53, Ki67, and CD30 and loss of CD117 expression fail to predict the presence of clinical metastasis at diagnosis of testicular seminoma and do not correlate with other histopathological risk factors in clinical stage I patients. 20881837 2011
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 AlteredExpression disease BEFREE Mutations and protein expression of KIT and PDGFRA genes in ipsilateral testicular seminomas: an immunohistochemical and molecular genetic study. 21403518 2011
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 AlteredExpression disease BEFREE However, protein expression of OCT3/4 and AP2y was weak and these JKT-1 cells expressed SOX2, a marker of embryonal carcinoma and did not express c-KIT usually expressed in most seminoma. 19226408 2010
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 GeneticVariation disease BEFREE Somatic KIT mutations occur predominantly in seminoma germ cell tumors and are not predictive of bilateral disease: report of 220 tumors and review of literature. 17943970 2008
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 Biomarker disease BEFREE Overexpression of KIT, a tyrosine kinase receptor protein encoded by the proto-oncogene c-kit, is observed in human neoplasms such as gastrointestinal stromal tumors (GISTs), myeloproliferative disorders, melanoma and seminoma. 18486988 2008
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 GeneticVariation disease BEFREE c-KIT is mutated in some seminomas and bilateral germ cell tumors. 18363516 2008
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 Biomarker disease BEFREE In addition, DOG1.1 immunoreactivity was seen in fewer cases of carcinoma, melanoma, and seminoma as compared with KIT. 18223323 2008
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 Biomarker disease BEFREE In order to assess a role for KIT in seminomas, we modulated the level of KIT expression in TCam-2, a seminoma cell line. 17573850 2007
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 Biomarker disease BEFREE Taken together with activating mutations of KIT in exon 17 identified in 13% of seminomas, this suggests that the KIT gene product plays a role in the progression of CIS towards seminoma, the further understanding of which may lead to novel less toxic therapeutic approaches. 16166280 2005
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 GeneticVariation disease BEFREE Biochemical evidence of KIT activation, as assessed by KIT phosphorylation and KIT association with phosphatidylinositol (PI) 3-kinase in tumor cell lysates, was largely confined to seminomas with a genomic KIT mutation. 14695343 2004
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 AlteredExpression disease BEFREE KIT tyrosine kinase is crucial for normal germ-cell development, and its expression is observed in the majority of seminomas and dysgerminomas. 15455230 2004
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 SomaticCausalMutation disease ORPHANET Biochemical evidence of KIT activation, as assessed by KIT phosphorylation and KIT association with phosphatidylinositol (PI) 3-kinase in tumor cell lysates, was largely confined to seminomas with a genomic KIT mutation. 14695343 2004
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 GeneticVariation disease BEFREE Among human testicular germ cell tumors (GCTs), seminomas and seminoma components of mixed GCTs have also been shown to express KIT, but only one study has found the c-kit gene mutation at exon 17 in seminoma. 12824871 2003
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 AlteredExpression disease LHGDN Primary mediastinal seminomas: evidence of single and multiple KIT mutations. 12379771 2002
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 Biomarker disease BEFREE The data obtained in both groups did not differ in any of the investigated biologic markers. c-KIT was detected in the one case of pure seminoma studied and in the seminomatous components of combined tumors. 12124830 2002
CUI: C0036631
Disease: Seminoma
Seminoma
0.400 AlteredExpression disease BEFREE The c-kit gene encodes a tyrosine kinase receptor (KIT) that is required in normal spermatogenesis and is expressed in seminomas and dysgerminomas, a subset of human germ cell tumors (GCTs). 10362788 1999