rs112445441, KRAS

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.810 CausalMutation CLINVAR
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.810 GeneticVariation UNIPROT
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.700 GeneticVariation UNIPROT
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
0.700 CausalMutation CLINVAR
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
0.700 CausalMutation CLINVAR
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Although the G13D KRAS mutation normally predicts an intermediate outcome, the aggressive tumor behavior suggests other modifying factors in rare types of colonic carcinomas. 22180717 2011
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.010 GeneticVariation BEFREE Analysis indicated one SCC patient (2.3%) exhibited a KRAS p.G13D mutation, and one adenocarcinoma patient (2.3%) exhibited a BRAF p.V600E mutation. 27573925 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.020 GeneticVariation BEFREE Analysis indicated one SCC patient (2.3%) exhibited a KRAS p.G13D mutation, and one adenocarcinoma patient (2.3%) exhibited a BRAF p.V600E mutation. 27573925 2016
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
0.040 GeneticVariation BEFREE Association between KRAS G13D mutations and anastomotic recurrence in colorectal cancer: Two case reports. 30896620 2019
Secondary malignant neoplasm of colon and/or rectum
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. 20978259 2010
Secondary malignant neoplasm of colon and/or rectum
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer treated with first-line chemotherapy with or without cetuximab. 22734028 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer treated with first-line chemotherapy with or without cetuximab. 22734028 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. 20978259 2010
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 CausalMutation CLINVAR Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. 19773371 2009
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
CUI: C1838329
Disease: APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
0.010 GeneticVariation BEFREE Both diseases were proposed to represent mosaic disorders, but only very recently whole-genome sequencing has led to the identification of somatic KRAS mutations, p.Leu19Phe and p.Gly13Asp, in affected tissue from two individuals with OES. 26970110 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR BRAF and RAS mutations in human lung cancer and melanoma. 12460918 2002
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR BRAF and RAS mutations in human lung cancer and melanoma. 12460918 2002
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Cetuximab treatment for metastatic colorectal cancer with KRAS p.G13D mutations improves progression-free survival. 26623049 2015
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
0.010 GeneticVariation BEFREE Comparative whole exome sequencing was then performed, which identified a KRAS p.G13D mutation in the LCS that was not present in the FL. 30322385 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Compared to patients with c.38G > A (rs112445441, p.G13D), patients with c.*4066delA (rs560890523) and c.38G > A (rs112445441, p.G13D) presented more aggressive tumors with highly invasive features. 27256640 2017
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Effect of simvastatin on cetuximab resistance in human colorectal cancer with KRAS mutations. 21398618 2011
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Efficacy according to biomarker status of cetuximab plus FOLFOX-4 as first-line treatment for metastatic colorectal cancer: the OPUS study. 21228335 2011
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Efficacy according to biomarker status of cetuximab plus FOLFOX-4 as first-line treatment for metastatic colorectal cancer: the OPUS study. 21228335 2011
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR Epidermal growth factor receptor blockers for the treatment of ovarian cancer. 21975775 2011
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. 19114683 2009