Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | Biomarker | disease | MGD | Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. | 26234751 | 2016 | ||||
|
0.800 | Biomarker | disease | MGD | A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF. | 22068587 | 2012 | ||||
|
0.800 | Biomarker | disease | MGD | Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO. | 22836362 | 2012 | ||||
|
0.800 | Biomarker | disease | MGD | Epidermal receptor activator of NF-kappaB ligand controls Langerhans cells numbers and proliferation. | 18606662 | 2008 | ||||
|
0.800 | GeneticVariation | disease | UNIPROT | Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. | 17632511 | 2007 | ||||
|
0.800 | Biomarker | disease | MGD | Regulation of peripheral lymph node genesis by the tumor necrosis factor family member TRANCE. | 11085748 | 2000 | ||||
|
0.800 | Biomarker | disease | MGD | Diverse roles of the tumor necrosis factor family member TRANCE in skeletal physiology revealed by TRANCE deficiency and partial rescue by a lymphocyte-expressed TRANCE transgene. | 10984520 | 2000 | ||||
|
0.800 | Biomarker | disease | CTD_human | |||||||
|
0.800 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.030 | GeneticVariation | disease | BEFREE | The discovery of truncating mutations of TNFRSF11A (W434X and G280X that lack the PLAD) as the cause of rare cases of osteoclast-poor osteopetrosis offered the opportunity for functional study of this region. | 24859969 | 2014 | ||||
|
0.030 | GeneticVariation | disease | BEFREE | In fact, we have recently reported that mutations in the TNFRSF11A gene lead to osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. | 22271396 | 2012 | ||||
|
0.030 | GeneticVariation | disease | BEFREE | Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. | 18606301 | 2008 |