RNU7-1 (RNA, U7 small nuclear 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 100147744
Gene name RNA, U7 small nuclear 1
Gene symbol RNU7-1
Synonyms (NCBI Gene)
AGS9RNU7U7.1
Chromosome 12
Chromosome location 12p13.31
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
617876 34033 ENSG00000238923
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Aicardi-Goutieres syndrome 9 Likely pathogenic rs1055698058, rs781842057 RCV001568348
RCV001797008
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spasticity Likely pathogenic rs1055698058 RCV005241250
★★★★★
★★★★☆
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
RNU7-1-related type 1 interferonopathy — ClinGen ClinGen report
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for RNU7-1.

No additional diseases found yet through genes similar to RNU7-1.