Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	123956252
Gene name	-
Gene symbol	RIPPLY2-CYB5R4
Synonyms (NCBI Gene)	-
Chromosome	6
Chromosome location	6q14.2

MIM	HGNC	e!Ensembl
N/A	N/A	N/A

Interactions View interactions

KEGG Pathway
Biosynthesis of various nucleotide sugars

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	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.
KLIPPEL FEIL SYNDROME RECESSIVE TYPE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RIPPLY2-CYB5R4 (-)

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