Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		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
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		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
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 GermlineCausalMutation disease ORPHANET Mutant CHUK and severe fetal encasement malformation. 20961246 2010
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 Biomarker disease GENOMICS_ENGLAND Mutant CHUK and severe fetal encasement malformation. 20961246 2010
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 Biomarker disease MGD A dual role for Ikk alpha in tooth development. 14960276 2004
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 Biomarker disease MGD IkappaB kinase alpha is essential for development of the mammalian cornea and conjunctiva. 11053261 2000
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 Biomarker disease MGD Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase. 10195896 1999
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 Biomarker disease MGD IKK1-deficient mice exhibit abnormal development of skin and skeleton. 10346820 1999
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 Biomarker disease MGD Limb and skin abnormalities in mice lacking IKKalpha. 10195895 1999
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 Biomarker disease CTD_human
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 CausalMutation disease CLINVAR
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker group CTD_human Mutant CHUK and severe fetal encasement malformation. 20961246 2010
CUI: C0013949
Disease: Embryopathies
Embryopathies 		0.300 Biomarker disease CTD_human Mutant CHUK and severe fetal encasement malformation. 20961246 2010
CUI: C0015929
Disease: Fetal Diseases
Fetal Diseases 		0.300 Biomarker group CTD_human Mutant CHUK and severe fetal encasement malformation. 20961246 2010
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		0.300 Biomarker group CTD_human Mutant CHUK and severe fetal encasement malformation. 20961246 2010
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.300 Biomarker group CTD_human IKK1-deficient mice exhibit abnormal development of skin and skeleton. 10346820 1999
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.300 Biomarker disease CTD_human IKK1-deficient mice exhibit abnormal development of skin and skeleton. 10346820 1999
CUI: C0013949
Disease: Embryopathies
Embryopathies 		0.300 Biomarker disease CTD_human Limb and skin abnormalities in mice lacking IKKalpha. 10195895 1999
CUI: C0013949
Disease: Embryopathies
Embryopathies 		0.300 Biomarker disease CTD_human Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase. 10195896 1999
CUI: C0013949
Disease: Embryopathies
Embryopathies 		0.300 Biomarker disease CTD_human IKK1-deficient mice exhibit abnormal development of skin and skeleton. 10346820 1999
CUI: C0015929
Disease: Fetal Diseases
Fetal Diseases 		0.300 Biomarker group CTD_human Limb and skin abnormalities in mice lacking IKKalpha. 10195895 1999
CUI: C0015929
Disease: Fetal Diseases
Fetal Diseases 		0.300 Biomarker group CTD_human IKK1-deficient mice exhibit abnormal development of skin and skeleton. 10346820 1999
CUI: C0015929
Disease: Fetal Diseases
Fetal Diseases 		0.300 Biomarker group CTD_human Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase. 10195896 1999
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.300 Biomarker group CTD_human IKK1-deficient mice exhibit abnormal development of skin and skeleton. 10346820 1999