This locus represents naturally-occurring readthrough transcription between the neighboring jumonji domain containing 7 (JMJD7) and phospholipase A2, group IVB (cytosolic) (PLA2G4B) genes. Readthrough transcripts encode fusion proteins that share amino ac
miRNAmiRNA information provided by mirtarbase database.
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.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
Colon adenocarcinoma
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JMJD7-PLA2G4B-related disorder
Likely benign; Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diseases Linked via Similar GenesDiseases curated for genes most similar to JMJD7-PLA2G4B (see Related Genes above), that are NOT already directly curated for JMJD7-PLA2G4B itself -- a lead worth checking, not a confirmed association.