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Date: Fri Apr 18 2025
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All
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Gene
Gene Ontology
Disease
Allele/Variant
Model
HTP Dataset Index
Category
Allele/Variant
21
Disease
2
Gene
2
Filter
25
results
for
spp-11
Page 1 of 1
spp-11
(
Caenorhabditis elegans
)
Gene
Name:
SaPosin-like Protein family 11
Synonyms:
T25D10.3, CELE_T25D10.3
Source:
WB:WBGene00004996
Biotype:
protein coding gene
Symbol:
spp-11
(Cel)
Symbol:
spp-11
Cross References:
spp-11
...WB:
spp-11
...
spp-11
Disease (2)
Allele/Variant (21)
PRX
(
Homo sapiens
)
Gene
Name:
periaxin
Synonyms:
KIAA1620, CMT4F
Source:
HGNC:13797
Biotype:
protein coding gene
Strict Orthology Symbols:
spp-11
Disease (2)
Allele/Variant (1201)
Charcot-Marie-Tooth disease type 4F
Disease
Source:
DOID:0110193
Definition:
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.
Genes:
spp-11
(Cel)
Gene (9)
Charcot-Marie-Tooth disease type 3
Disease
Source:
DOID:0050540
Definition:
A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
Genes:
spp-11
(Cel)
Gene (32)
Allele/Variant (4)
Model (4)
(WBcel235)II:6406372C>T
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406372C>T
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant, intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406372C>T
Gene Cross References:
spp-11
(WBcel235)II:6405760A>C
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6405760A>C
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
splice_region_variant, intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6405760A>C
Gene Cross References:
spp-11
(WBcel235)II:6406008C>T
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406008C>T
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406008C>T
Gene Cross References:
spp-11
(WBcel235)II:6407004G>A
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6407004G>A
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6407004G>A
Gene Cross References:
spp-11
(WBcel235)II:6407021G>A
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6407021G>A
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6407021G>A
Gene Cross References:
spp-11
(WBcel235)II:6406021C>T
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406021C>T
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406021C>T
Gene Cross References:
spp-11
(WBcel235)II:6406796G>A
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406796G>A
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406796G>A
Gene Cross References:
spp-11
(WBcel235)II:6406840A>G
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406840A>G
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
splice_region_variant, missense_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406840A>G
Gene Cross References:
spp-11
(WBcel235)II:6406934C>T
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406934C>T
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406934C>T
Gene Cross References:
spp-11
(WBcel235)II:6405453G>A
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6405453G>A
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6405453G>A
Gene Cross References:
spp-11
(WBcel235)II:6405637G>A
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6405637G>A
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6405637G>A
Gene Cross References:
spp-11
(WBcel235)II:6405648C>T
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6405648C>T
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
splice_donor_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6405648C>T
Gene Cross References:
spp-11
(WBcel235)II:6405475C>T
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6405475C>T
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6405475C>T
Gene Cross References:
spp-11
(WBcel235)II:6406682G>A
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406682G>A
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
synonymous_variant, intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406682G>A
Gene Cross References:
spp-11
(WBcel235)II:6407058G>A
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6407058G>A
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6407058G>A
Gene Cross References:
spp-11
(WBcel235)II:6407064T>C
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6407064T>C
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6407064T>C
Gene Cross References:
spp-11
(WBcel235)II:6405701C>T
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6405701C>T
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6405701C>T
Gene Cross References:
spp-11
(WBcel235)II:6406899G>A
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406899G>A
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406899G>A
Gene Cross References:
spp-11
(WBcel235)II:6406006T>C
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406006T>C
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406006T>C
Gene Cross References:
spp-11
(WBcel235)II:6406016C>T
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406016C>T
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406016C>T
Gene Cross References:
spp-11
(WBcel235)II:6406639C>T
(
Caenorhabditis elegans
)
Allele/Variant
Source:
NC_003280.10:g.6406639C>T
Genes:
spp-11
(Cel)
Synonyms:
Not Available
Variant Type:
SNP
Molecular Consequence:
missense_variant, intron_variant
Diseases:
Not Available
Variant Name:
(WBcel235)II:6406639C>T
Gene Cross References:
spp-11
Page 1 of 1
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