rs104894230, HRAS;LRRC56

N. diseases: 73
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
0.010 GeneticVariation BEFREE In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. 30891959 2019
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.010 GeneticVariation BEFREE Importantly, FGTI-2734 inhibited the growth of xenografts derived from four patients with pancreatic cancer with mutant KRAS (2 G12D and 2 G12V) tumors. 31227505 2019
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE Importantly, FGTI-2734 inhibited the growth of xenografts derived from four patients with pancreatic cancer with mutant KRAS (2 G12D and 2 G12V) tumors. 31227505 2019
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
0.010 GeneticVariation BEFREE This case emphasizes the fact that HRAS is the only gene responsible for neuromuscular spindle excess, underlines a correlation between p.Gly12Val mutation and severe CS phenotype and points out the importance of a muscle biopsy performed according to the suitable procedure in neuromuscular disorders for any fetal arthrogryposis. 28455154 2017
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
0.010 GeneticVariation BEFREE Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. 28594414 2017
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
0.010 GeneticVariation BEFREE Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. 28594414 2017
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
0.010 GeneticVariation BEFREE This case emphasizes the fact that HRAS is the only gene responsible for neuromuscular spindle excess, underlines a correlation between p.Gly12Val mutation and severe CS phenotype and points out the importance of a muscle biopsy performed according to the suitable procedure in neuromuscular disorders for any fetal arthrogryposis. 28455154 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation. 27863474 2016
Ductal Carcinoma
CUI: C1176475
Disease: Ductal Carcinoma
0.010 GeneticVariation BEFREE We employed the sensitive and quantitative Allele-specific Competitive Blocker PCR approach to characterize mutant cancer subpopulations in ductal carcinomas (DCs), examining five specific hotspot point mutations (PIK3CA H1047R, KRAS G12D, KRAS G12V, HRAS G12D, and BRAF V600E). 27108388 2016
Precancerous Conditions
CUI: C0032927
Disease: Precancerous Conditions
0.010 GeneticVariation BEFREE In sst2+/- mice, PI3K was activated and signaled via AKT (PKB; protein kinase B); when these mice were crossed with KRAS(G12D) mice, premalignant lesions, tumors, and lymph node metastases developed more rapidly than in KRAS(G12D) mice. 25683115 2015
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE In sst2+/- mice, PI3K was activated and signaled via AKT (PKB; protein kinase B); when these mice were crossed with KRAS(G12D) mice, premalignant lesions, tumors, and lymph node metastases developed more rapidly than in KRAS(G12D) mice. 25683115 2015
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE A doxycycline-inducible mouse model of KRAS (G12D) driven NSCLC and patient data was analyzed from multiple publicly accessible databases including TCGA, CCLE, NCBI GEO and Project Achilles. 26173780 2015
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.010 GeneticVariation BEFREE We successfully established a mouse model of human leukemia by transplanting bone marrow cells co-transfected with the K-ras (G12D) mutation and AML1/ETO fusion protein. 24480914 2014
Adult Acute Monoblastic Leukemia
CUI: C0279629
Disease: Adult Acute Monoblastic Leukemia
0.010 GeneticVariation BEFREE Co-transduction of Kras(G12D) and AML1/ETO induces acute monoblastic leukemia. 24480914 2014
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
0.010 GeneticVariation BEFREE Co-transduction of Kras(G12D) and AML1/ETO induces acute monoblastic leukemia. 24480914 2014
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.010 GeneticVariation BEFREE In addition, 1 SK revealed the KRAS p.G12V mutation, which has already been reported in SK. 23739246 2014
Papilloma
CUI: C0030354
Disease: Papilloma
0.010 GeneticVariation BEFREE Hras(G12V) allele copy number was increased in all papillomas induced by TPA. 24240680 2014
leukemia
CUI: C0023418
Disease: leukemia
0.010 GeneticVariation BEFREE We successfully established a mouse model of human leukemia by transplanting bone marrow cells co-transfected with the K-ras (G12D) mutation and AML1/ETO fusion protein. 24480914 2014
Acute monoblastic leukemia
CUI: C0457334
Disease: Acute monoblastic leukemia
0.010 GeneticVariation BEFREE Co-transduction of Kras(G12D) and AML1/ETO induces acute monoblastic leukemia. 24480914 2014
Childhood Acute Monoblastic Leukemia
0.010 GeneticVariation BEFREE Co-transduction of Kras(G12D) and AML1/ETO induces acute monoblastic leukemia. 24480914 2014
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
0.010 GeneticVariation BEFREE We developed two mouse models of esophageal cancer by inoculating immunocompetent mice with syngeneic esophageal cell lines transformed by cyclin-D1 or mutant HRAS(G12V) and loss of p53. 21869822 2011
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
0.010 GeneticVariation BEFREE The transformed phenotype of IOE(CMYC) cells was further enhanced in concert with KRAS(G12V)/BRAF(V600E) expression, as in vitro analyses indicated that IOE(CMYC) cells had undergone morphological and phenotypic changes characteristic of neoplastic progression. 21859834 2011
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
0.010 GeneticVariation BEFREE We developed two mouse models of esophageal cancer by inoculating immunocompetent mice with syngeneic esophageal cell lines transformed by cyclin-D1 or mutant HRAS(G12V) and loss of p53. 21869822 2011
Thymic Carcinoma
CUI: C0205969
Disease: Thymic Carcinoma
0.010 GeneticVariation BEFREE One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. 19861435 2009
Thymoma
CUI: C0040100
Disease: Thymoma
0.010 GeneticVariation BEFREE One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. 19861435 2009