The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the prote
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
12
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","ClinVar (Lethal congenital contracture syndrome)","GWAS catalog (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
12
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","ClinVar (Lethal congenital contracture syndrome)","GWAS catalog (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
10
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
11
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","ClinVar (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
11
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","ClinVar (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
Diseases Linked via Similar GenesDiseases curated for genes most similar to ZBTB42 (see Related Genes above), that are NOT already directly curated for ZBTB42 itself -- a lead worth checking, not a confirmed association.