Gene Gene information from NCBI Gene database.
Entrez ID 123956252
Gene name -
Gene symbol RIPPLY2-CYB5R4
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6q14.2
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Biosynthesis of various nucleotide sugars  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Evidence Score
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