Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.010 | AlteredExpression | disease | BEFREE | The association of a decreased ASM activity and an overgrowth disorder, Beckwith-Wiedemann Syndrome (BWS) with hemihypertrophy has been described at a 23 months old boy in a recent case report (Réthy et al, in this issue). | 11310411 | 2000 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | There is no known association between CMN and WT1 gene expression and the association of hemihypertrophy and CMN is not well known. | 19011477 | 2008 | ||||
|
0.120 | CausalMutation | disease | CLINVAR | |||||||
|
0.100 | CausalMutation | disease | CLINVAR | |||||||
|
0.410 | GermlineCausalMutation | disease | ORPHANET | Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy. | 16532391 | 2006 | ||||
|
0.410 | GermlineCausalMutation | disease | ORPHANET | IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia. | 18159214 | 2008 | ||||
|
0.410 | GermlineCausalMutation | disease | ORPHANET | LIT1 and H19 methylation defects in isolated hemihyperplasia. | 15651076 | 2005 | ||||
|
0.400 | GermlineCausalMutation | disease | ORPHANET | LIT1 and H19 methylation defects in isolated hemihyperplasia. | 15651076 | 2005 | ||||
|
0.400 | GermlineCausalMutation | disease | ORPHANET | Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. | 16770802 | 2006 | ||||
|
0.400 | GermlineCausalMutation | disease | ORPHANET | IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia. | 18159214 | 2008 |