All Snps(Total Genotypes:20) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs121909362 | 17462934 | 7052 | TGM2 | umls:C0013336 | BeFree | The formerly in patients with Laron syndrome and idiopathic short stature reported mutation R179C leads to an amino acid change from an arginine residue (codon CGC) to a cysteine residue (codon TGC) in position 179 of the extracellular domain of the GHR. | 0.000542884 | 2007 | GHR | 5 | 42699919 | C | T |
| rs121909362 | 17462934 | 2690 | GHR | umls:C0013336 | BeFree | The formerly in patients with Laron syndrome and idiopathic short stature reported mutation R179C leads to an amino acid change from an arginine residue (codon CGC) to a cysteine residue (codon TGC) in position 179 of the extracellular domain of the GHR. | 0.012486326 | 2007 | GHR | 5 | 42699919 | C | T |
| rs121913479 | 10587515 | 2261 | FGFR3 | umls:C0013336 | BeFree | Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia. | 0.009229024 | 1999 | FGFR3 | 4 | 1804362 | G | T |
| rs121917843 | 15531542 | 5626 | PROP1 | umls:C0013336 | BeFree | This report showed the deleterious effect of the recessive R73C mutation that affects a hot spot of the PROP1 gene and was associated with severe dwarfism, a lack of spontaneous puberty, and a high incidence of early onset of corticotroph deficiency. | 0.003257302 | 2004 | PROP1 | 5 | 177994231 | G | A |
| rs121918456 | 19725129 | 2200 | FBN1 | umls:C0013336 | BeFree | We conclude that each mutation contributed independently to individual features in the ocular and cardiovascular systems, although short stature was more significantly influenced by the p.Y279C change in PTPN11 rather than the mutation in FBN1. | 0.000542884 | 2009 | PTPN11 | 12 | 112473023 | A | C,G |
| rs121918456 | 21339643 | 5781 | PTPN11 | umls:C0013336 | BeFree | Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmorphia, and morphologic, histologic, echocardiographic, and molecular evidence of hypertrophic cardiomyopathy (HCM). | 0.002442977 | 2011 | PTPN11 | 12 | 112473023 | A | C,G |
| rs121918456 | 19725129 | 5781 | PTPN11 | umls:C0013336 | BeFree | We conclude that each mutation contributed independently to individual features in the ocular and cardiovascular systems, although short stature was more significantly influenced by the p.Y279C change in PTPN11 rather than the mutation in FBN1. | 0.002442977 | 2009 | PTPN11 | 12 | 112473023 | A | C,G |
| rs137853092 | 20956807 | 65266 | WNK4 | umls:C0013336 | BeFree | Short stature is not part of FHHt with the WNK4 Q565E mutation. | 0.000271442 | 2011 | WNK4 | 17 | 42787494 | C | G |
| rs17032362 | 22689104 | 3479 | IGF1 | umls:C0013336 | BeFree | No effect of the IGF-1 gene rs35767 and rs17032362 polymorphisms in the etiology of idiopathic short stature. | 0.020010754 | 2012 | NA | 12 | 102236525 | G | A |
| rs201286192 | 16511600 | 2693 | GHSR | umls:C0013336 | BeFree | By combination of the observations from this study with those related to the phenotype of subjects carrying another natural ghrelin receptor mutation, Phe279Leu, having identical molecular-pharmacological properties, it is proposed that selective lack of ghrelin receptor constitutive signaling leads to a syndrome characterized not only by short stature, but also by obesity that apparently develops during puberty. | 0.001900093 | 2006 | GHSR | 3 | 172445425 | G | T |
| rs2076738 | 15171721 | 7038 | TG | umls:C0013336 | BeFree | We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation. | 0.120271442 | 2004 | TG | 8 | 132906843 | T | C |
| rs2076739 | 15171721 | 7038 | TG | umls:C0013336 | BeFree | We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation. | 0.120271442 | 2004 | TG | 8 | 132971804 | T | A |
| rs28931614 | 10200283 | 2261 | FGFR3 | umls:C0013336 | BeFree | Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3). | 0.009229024 | 1999 | FGFR3 | 4 | 1804392 | G | A,C |
| rs28931614 | 20624921 | 2261 | FGFR3 | umls:C0013336 | BeFree | The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism. | 0.009229024 | 2010 | FGFR3 | 4 | 1804392 | G | A,C |
| rs28931614 | 23056398 | 2261 | FGFR3 | umls:C0013336 | BeFree | The Gly380Arg mutation in FGFR3 is the genetic cause for achondroplasia (ACH), the most common form of human dwarfism. | 0.009229024 | 2012 | FGFR3 | 4 | 1804392 | G | A,C |
| rs28931614 | 21324899 | 2261 | FGFR3 | umls:C0013336 | BeFree | The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism. | 0.009229024 | 2011 | FGFR3 | 4 | 1804392 | G | A,C |
| rs35767 | 22689104 | 3479 | IGF1 | umls:C0013336 | BeFree | No effect of the IGF-1 gene rs35767 and rs17032362 polymorphisms in the etiology of idiopathic short stature. | 0.020010754 | 2012 | IGF1 | 12 | 102481791 | A | G |
| rs397514461 | 22461651 | 6473 | SHOX | umls:C0013336 | BeFree | The A170P mutation is the most prevalent mutation in the Spanish gypsy population affected with short stature disorders. | 0.022725172 | 2012 | SHOX | Y;X | 640842;640842 | G | C |
| rs60864230 | 16174718 | 4000 | LMNA | umls:C0013336 | BeFree | A heterozygous missense mutation substituting arginine at position 133 to leucine in the lamin A/C protein has been reported in two young women with clinical features of short stature, bird-like faces, and early onset of aging processes. | 0.000542884 | 2005 | LMNA | 1 | 156130658 | G | A,C,T |
| rs78311289 | 23972473 | 2263 | FGFR2 | umls:C0013336 | BeFree | The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes Thanatophoric Dysplasia type II, a neonatal lethal congenital dwarfism syndrome, and when acquired somatically, it contributes to carcinogenesis. | 0.000542884 | 2013 | FGFR3 | 4 | 1806162 | A | C,G |
