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GENE - TERM ANNOTATION REPORT

RGD ID: 1354325
Species: Homo sapiens
RGD Object: Gene
Symbol: B4GALT7
Name: beta-1,4-galactosyltransferase 7
Acc ID: DOID:0111508
Term: Torrance type platyspondylic dysplasia
Definition: An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14729840 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/448481 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
B4GALT7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lethal skeletal dysplasiaPMID:25741868 PMID:28492532 PMID:31278392
B4GALT7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lethal skeletal dysplasiaPMID:1221956 PMID:15211654 PMID:1640425 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:31278392
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