Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.920 | GeneticVariation | disease | BEFREE | Heterozygous mutations in IRF6 cause popliteal pterygium syndrome (PPS) while homozygous mutations in RIPK4 or CHUK (IKKA) cause the more severe Bartsocas-Papas syndrome (BPS) and Cocoon syndrome, respectively. | 25691407 | 2015 | ||||
|
0.920 | Biomarker | disease | BEFREE | Additionally, the spectrum of malformations observed in the presented families is similar, but less severe than the conserved helix-loop-helix ubiquitous kinase (CHUK)-deficient human fetus phenotype; known as Cocoon syndrome; this similarity indicates that RIPK4 and CHUK might function via closely related pathways to promote keratinocyte differentiation and epithelial growth. | 22197489 | 2012 | ||||
|
0.920 | GermlineCausalMutation | disease | ORPHANET | Mutant CHUK and severe fetal encasement malformation. | 20961246 | 2010 | ||||
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND | Mutant CHUK and severe fetal encasement malformation. | 20961246 | 2010 | ||||
|
0.920 | Biomarker | disease | MGD | A dual role for Ikk alpha in tooth development. | 14960276 | 2004 | ||||
|
0.920 | Biomarker | disease | MGD | IkappaB kinase alpha is essential for development of the mammalian cornea and conjunctiva. | 11053261 | 2000 | ||||
|
0.920 | Biomarker | disease | MGD | Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase. | 10195896 | 1999 | ||||
|
0.920 | Biomarker | disease | MGD | IKK1-deficient mice exhibit abnormal development of skin and skeleton. | 10346820 | 1999 | ||||
|
0.920 | Biomarker | disease | MGD | Limb and skin abnormalities in mice lacking IKKalpha. | 10195895 | 1999 | ||||
|
0.920 | Biomarker | disease | CTD_human | |||||||
|
0.920 | CausalMutation | disease | CLINVAR | |||||||
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND |