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GENE - TERM ANNOTATION REPORT

RGD ID: 1344496
Species: Homo sapiens
RGD Object: Gene
Symbol: TSPEAR
Name: thrombospondin type laminin G domain and EAR repeats
Acc ID: DOID:0111662
Term: ectodermal dysplasia 14
Definition: An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27736875 "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)
TSPEAR IAGP 7240710OMIM  
TSPEAR IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:25741868
TSPEAR IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:24033266 PMID:25741868 PMID:28492532
TSPEAR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 PMID:27736875 PMID:28492532 PMID:29144512 PMID:30046887 PMID:34042254
TSPEAR IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:25741868 PMID:28492532 PMID:34042254
TSPEAR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:28492532 PMID:34042254 PMID:34556655
TSPEAR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 
TSPEAR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesisPMID:24033266 PMID:25741868 PMID:27736875 PMID:28492532 PMID:34042254
TSPEAR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:22678063 PMID:24033266 PMID:25741868 PMID:27736875 PMID:28492532 PMID:30544257 PMID:32112661 PMID:34042254
TSPEAR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:27736875
TSPEAR IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:25741868 PMID:28492532
TSPEAR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:17576681 PMID:25741868 PMID:28492532 PMID:34042254 PMID:9536098
TSPEAR IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisPMID:35741818
TSPEAR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosisPMID:22678063 PMID:25741868 PMID:27736875 PMID:30046887
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