Gene Term Annotation Report - Rat Genome Database

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GENE - TERM ANNOTATION REPORT

RGD ID:	1308213
Species:	Rattus norvegicus
RGD Object:	Gene
Symbol:	Pbx1
Name:	PBX homeobox 1

Acc ID:	DOID:0112359
Term:	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Definition:	A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. (DO)
Definition Source(s):	https://pubmed.ncbi.nlm.nih.gov/28566479/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/29036646/ "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 Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
Pbx1		ISO	PBX1 (Homo sapiens)	155630607	RGD	DNA:missense mutations:multiple (human)
Pbx1		ISO	PBX1 (Homo sapiens)	7240710	OMIM
Pbx1		ISO	PBX1 (Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay \| ClinVar Annotator: match by term: PBX1-related condition \| ClinVar Annotator: match by term: PBX1-related intellectual disability and pleiotropic developmental defects	PMID:25741868 PMID:28492532 PMID:28566479 PMID:29036646 PMID:29226118 PMID:29966037 PMID:32860008
Pbx1		ISS	Pbx1 (Mus musculus)	13592920	MouseDO	OMIM:617641

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