Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II (PubMed:10075709, PubMed:10199401, PubMed:10421630, PubMed:10757782, PubMed:10912001, PubM
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
Malignant tumor of esophagus
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder
Likely benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through text mining
["Viral life cycle - HIV-1","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","Formation of the Early Elongation Complex","RNA polymerase II transcribes snRNA genes","Formation of HIV-1 elongation complex containing HIV-1 Tat"]
["Viral life cycle - HIV-1","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","Formation of the Early Elongation Complex","Formation of HIV-1 elongation complex containing HIV-1 Tat"]
["Viral life cycle - HIV-1","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","Formation of the Early Elongation Complex","Formation of HIV-1 elongation complex containing HIV-1 Tat"]
["Viral life cycle - HIV-1","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","Formation of the Early Elongation Complex","Formation of HIV-1 elongation complex containing HIV-1 Tat"]
["Viral life cycle - HIV-1","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","Formation of the Early Elongation Complex","Formation of HIV-1 elongation complex containing HIV-1 Tat"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to SUPT5H (see Related Genes above), that are NOT already directly curated for SUPT5H itself -- a lead worth checking, not a confirmed association.