FOXJ1, forkhead box J1, 2302

N. diseases: 61; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.020 GeneticVariation disease BEFREE Heterozygous de novo mutations in FOXJ1, which encodes a well-known member of the forkhead transcription factors important for ciliogenesis of motile cilia, cause a motile ciliopathy that is characterized by hydrocephalus internus, chronic destructive airway disease, and randomization of left/right body asymmetry. 31630787 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.020 Biomarker disease BEFREE Mechanistic analyses revealed a novel NF-κB-independent IKK2 activity stabilizing Foxj1 in mature ECs, and we found that known IKK2 inhibitors including viruses and growth factors robustly induced Foxj1 degradation, EC de-differentiation, and hydrocephalus. 29695808 2018