Gene Term Annotation Report - Rat Genome Database

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GENE - TERM ANNOTATION REPORT

RGD ID:	735950
Species:	Homo sapiens
RGD Object:	Gene
Symbol:	CACNA1A
Name:	calcium voltage-gated channel subunit alpha1 A

Acc ID:	HP:0001249
Term:	Intellectual disability
Definition:	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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)
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:20156848 PMID:24108129 PMID:25356970 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30167989
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:25741868 PMID:28492532
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:25741868 PMID:28492532
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:20129625 PMID:25741868 PMID:28492532 PMID:34085110
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
CACNA1A		IAGP	(Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
CACNA1A		IAGP		8699517	HPO		OMIM:617106
CACNA1A		IAGP		8699517	HPO		ORPHA:2131
CACNA1A		IAGP		8699517	HPO		ORPHA:2382
CACNA1A		IAGP		8699517	HPO		ORPHA:442835
CACNA1A		IAGP		8699517	HPO		ORPHA:569
CACNA1A		IAGP		8699517	HPO		ORPHA:97

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