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Gene Gene information from NCBI Gene database.
Entrez ID 105804841
Gene name -
Gene symbol ZRS
Synonyms (NCBI Gene)
MFCS1ZRS/LMBR1pZRS
Chromosome 7
Chromosome location 7q
Summary This locus represents a highly conserved functional element that is located in an intron of the limb development membrane protein 1 (LMBR1) gene. In the developing limb bud, this element functions as a long-range enhancer of the sonic hedgehog signaling m
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620738 N/A N/A
Interactions View interactions
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Polydactyly of a triphalangeal thumb Pathogenic rs2536133540, rs606231230, rs606231231 RCV003985053
RCV003991460
RCV003991461
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tibia, hypoplasia or aplasia of, with polydactyly Pathogenic rs606231147 RCV003991465
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)