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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:0080738
Term: Ehlers-Danlos syndrome spondylodysplastic type 1
Definition: An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23956117/ "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 7240710OMIM  
B4GALT7 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
B4GALT7 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1PMID:25741868 PMID:28492532
B4GALT7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1PMID:25741868 PMID:26940150 PMID:28492532 PMID:30914273
B4GALT7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1PMID:25533962 PMID:25741868 PMID:26940150 PMID:28306225 PMID:28492532 PMID:31614862
B4GALT7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1PMID:25741868 PMID:28492532 PMID:31278392 PMID:31614862
B4GALT7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1PMID:25741868 PMID:28492532 PMID:31278392
B4GALT7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
B4GALT7 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1PMID:25741868
B4GALT7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1PMID: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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