Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	267010
Gene name	RNA, U12 small nuclear
Gene symbol	RNU12
Synonyms (NCBI Gene)	CDAGSRNU12-1RNU12LRNU12PSCAR33dJ222E13.7
Chromosome	22
Chromosome location	22q13.2

MIM	HGNC	e!Ensembl
620204	19380	ENSG00000276027

Interactions View interactions

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Craniosynostosis-anal anomalies-porokeratosis syndrome	Pathogenic; Likely pathogenic	rs906381816, rs548281798, rs768684008, rs552666394	RCV003152390 RCV003152391 RCV003152392 RCV003152393 RCV003152394	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia, autosomal recessive 33	Pathogenic; Likely pathogenic	rs562254327, rs548281798, rs768684008	RCV003152389 RCV006250191 RCV006259427	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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.
RNU12-related minor spliceopathy disorder	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (9)
Cerebellar Ataxia, Early Onset	Cerebellar Ataxia	BEFREE	27863452	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebellar ataxia due to RNU12 mutation	Congenital Cerebellar Ataxia	Orphanet		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30446432	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	31390976	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with RNU12 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for RNU12.

Diseases Linked via Similar Genes Diseases curated for genes most similar to RNU12 (see Related Genes above), that are NOT already directly curated for RNU12 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to RNU12.

RNU12 (RNA, U12 small nuclear)

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