Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.710 GeneticVariation BEFREE Next-generation sequencing identified recurrent mutations in HRAS (Q61R) in 3 of 5 IUPs, described for the first time in this neoplasm. 25097040 2014
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE Mutations in RAS genes (HRAS G13R, KRAS G12D, KRAS Q61R, NRAS Q61R) were detected in benign lesions and HRAS Q61R, NRAS Q61K mutations in PTCs. 31085772 2019
Solid/Multicystic Ameloblastoma
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
0.010 GeneticVariation BEFREE Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM. 30216733 2019
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.010 GeneticVariation BEFREE RNA sequencing and Sanger sequencing identified PIK3CA (p.E545K/p.H1047R) and/or HRAS (p.Q61R) hotspot mutations in 6 of 8 (75%) apocrine carcinomas. 29443014 2018
Eccrine porocarcinoma
CUI: C1266065
Disease: Eccrine porocarcinoma
0.010 GeneticVariation BEFREE Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C). 29269125 2018
melanoma
CUI: C0025202
Disease: melanoma
0.010 GeneticVariation BEFREE The rarity of HRAS and KRAS Q61R mutants in malignant melanoma</span> let previous investigations erroneously conclude that SP174 is specific for NRAS Q61R-mutant protein. 29206715 2018
Recurrent tumor
CUI: C0521158
Disease: Recurrent tumor
0.010 GeneticVariation BEFREE However, we identified a co-occurring somatic HRAS (p.Q61R) activating point mutation and MEN1 frameshift mutation (p.L117fs) present in a primary and recurrent tumor from one patient. 27175596 2016
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.010 GeneticVariation BEFREE Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). 24828033 2014
Familial medullary thyroid carcinoma
0.010 GeneticVariation BEFREE Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). 24828033 2014
Inverted urothelial papilloma
CUI: C1334282
Disease: Inverted urothelial papilloma
0.010 GeneticVariation BEFREE Next-generation sequencing identified recurrent mutations in HRAS (Q61R) in 3 of 5 IUPs, described for the first time in this neoplasm. 25097040 2014
Follicular Variant Thyroid Gland Papillary Carcinoma
0.010 GeneticVariation BEFREE Overall, 13 cases (46%) harbored RAS mutations, including seven (25%) with NRAS mutations (p.Gln61Arg) and six (21%) with HRAS mutations (five had p.Gln61Arg and one had a p.Gln61Lys substitution).No PE/WC FVPTCs had BRAF mutations. 23477374 2013