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GENE - TERM ANNOTATION REPORT

RGD ID: 733638
Species: Homo sapiens
RGD Object: Gene
Symbol: GATA3
Name: GATA binding protein 3
Acc ID: DOID:0060878
Term: hypoparathyroidism-deafness-renal disease syndrome
Definition: A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10935639 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/874665 "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)
GATA3 IAGP 7240710OMIM  
GATA3 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:20006695
GATA3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome 
GATA3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:25741868 PMID:28492532
GATA3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:28492532
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:25741868 PMID:26467025 PMID:28492532
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:15705923 PMID:24033266 PMID:26467025 PMID:28492532
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:28492532 PMID:31433868
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:25741868 PMID:25741912
GATA3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:25741868
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:25741868 PMID:28492532 PMID:30311386
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:23052618
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:28566604
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:14985365 PMID:17210674 PMID:21242646 PMID:25741868 PMID:28492532
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:11389161 PMID:17576681 PMID:26316437 PMID:28492532 PMID:30534854 PMID:35802133 PMID:36633841 PMID:9536098
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:21120445 PMID:25741868 PMID:26514990 PMID:27387476 PMID:28492532 PMID:32442337
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:14985365 PMID:16199547 PMID:16912130 PMID:21120445 PMID:21242646 PMID:25741868 PMID:27387476 PMID:28492532
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:14985365 PMID:17210674 PMID:21242646 PMID:25741868 PMID:26282285 PMID:28492532
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:14985365 PMID:19057839 PMID:21242646 PMID:25741868 PMID:28492532
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:18621058 PMID:23142663 PMID:23435732
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:14985365 PMID:21242646 PMID:25741868 PMID:28492532 PMID:30143558 PMID:30396722 PMID:33120464
GATA3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:10935639
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:10935639 PMID:14985365 PMID:21242646 PMID:28492532
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:11389161
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:11389161 PMID:19253381 PMID:21120445 PMID:25137426 PMID:25741868 PMID:26316437 PMID:28492532 PMID:30534854
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:17309062 PMID:25741868
GATA3 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:16912130
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:19248180
GATA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:21834031
GATA3 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:24728327 PMID:28492532
GATA3 ISSGata3 (Mus musculus)13592920MouseDOOMIM:146255 
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