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.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
EBV-positive nodal T- and NK-cell lymphoma
Likely benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Related GenesGenes most often co-reported with ISY1 across shared curated disease and pathway associations.
["Spliceosome","Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","mRNA Splicing - Major Pathway"]
["Spliceosome","Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","mRNA Splicing - Major Pathway"]
["Spliceosome","Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","mRNA Splicing - Major Pathway"]
["Spliceosome","Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","mRNA Splicing - Major Pathway"]
["Spliceosome","Formation of TC-NER Pre-Incision Complex","Transcription-Coupled Nucleotide Excision Repair (TC-NER)","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","mRNA Splicing - Major Pathway"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to ISY1 (see Related Genes above), that are NOT already directly curated for ISY1 itself -- a lead worth checking, not a confirmed association.