rs104894228, LRRC56;HRAS

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation BEFREE Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. 21438134 2011
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation BEFREE Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. 28337834 2017
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation BEFREE We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. 19213030 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.710 GeneticVariation BEFREE Using next-generation sequencing techniques, we were able to identify the same HRAS G13R mutation within both components of the tumor, and to show the absence of additional mutated modifier genes in a panel of 300 cancer-related genes. 24628623 2014
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
0.710 GeneticVariation BEFREE Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. 22683711 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 GeneticVariation BEFREE Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation. 26265449 2015
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
Rhabdomyosarcoma
CUI: C0035412
Disease: Rhabdomyosarcoma
0.010 GeneticVariation BEFREE Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma. 29430633 2018
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.010 GeneticVariation BEFREE The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay. 21438134 2011
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
0.010 GeneticVariation BEFREE Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation. 26265449 2015
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.010 GeneticVariation BEFREE Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001). 21438134 2011
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
0.010 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.010 GeneticVariation BEFREE The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay. 21438134 2011
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.010 GeneticVariation BEFREE The HRAS c.37G>C mutation was also found in 8 of 8 associated secondary tumors. 22683711 2012
Adult Rhabdomyosarcoma
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
0.010 GeneticVariation BEFREE Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma. 29430633 2018
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.010 GeneticVariation BEFREE Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation. 26265449 2015
Childhood Rhabdomyosarcoma
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
0.010 GeneticVariation BEFREE Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma. 29430633 2018
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.010 GeneticVariation BEFREE The two patients with 35G --> C had cardiac arrhythmias whereas one patient with a 37G --> T transversion had an enlarged aortic root. 16372351 2006
Trichoepithelioma
CUI: C0349658
Disease: Trichoepithelioma
0.010 GeneticVariation BEFREE A multigene hotspot mutational profiling of the BRAF, NRAS, HRAS and KRAS genes was carried out, and a shared G13R HRAS mutation in both the trichoblastoma and the sebaceous nevus components was found. 28554764 2017
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
0.010 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620 2017
Noonan syndrome-like disorder with loose anagen hair
0.010 GeneticVariation BEFREE The facial and hair abnormalities of the HRAS p.Gly13Asp individuals differ from the typical pattern observed in those showing the common HRAS (p.Gly12Ser) mutation, with less coarse facial features and slow growing, sparse hair with abnormal texture, the latter resembling the pattern observed in Noonan syndrome-like disorder with loose anagen hair and individuals harboring another amino acid substitution in HRAS (p.Gly13Cys). 28371260 2017
Nevus
CUI: C0027960
Disease: Nevus
0.010 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620 2017
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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE Although some individuals with HRAS p.Gly13Asp developed papillomata and vascular proliferation lesions, no malignant tumors occurred, similar to what was reported for individuals harboring the HRAS p.Gly13Cys. 28371260 2017
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.010 GeneticVariation BEFREE Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. 28337834 2017