Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10370
Gene name	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Gene symbol	CITED2
Synonyms (NCBI Gene)	ASD8MRG-1MRG1P35SRJVSD2
Chromosome	6
Chromosome location	6q24.1
Summary	The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript vari

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1583066622	T>G	Likely-pathogenic	Missense variant, coding sequence variant

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016167	hsa-miR-590-3p	Sequencing	20371350
MIRT017586	hsa-miR-335-5p	Microarray	18185580
MIRT027052	hsa-miR-103a-3p	Sequencing	20371350
MIRT558725	hsa-miR-6882-5p	PAR-CLIP	21572407
MIRT558724	hsa-let-7c-3p	PAR-CLIP	21572407
MIRT558723	hsa-let-7a-2-3p	PAR-CLIP	21572407
MIRT558722	hsa-let-7g-3p	PAR-CLIP	21572407
MIRT558721	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT558720	hsa-miR-182-5p	PAR-CLIP	21572407
MIRT558719	hsa-miR-489-3p	PAR-CLIP	21572407
MIRT558718	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT558717	hsa-miR-4470	PAR-CLIP	21572407
MIRT456362	hsa-miR-548aa	PAR-CLIP	23592263
MIRT456361	hsa-miR-548ap-3p	PAR-CLIP	23592263
MIRT456360	hsa-miR-548t-3p	PAR-CLIP	23592263
MIRT456359	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT456358	hsa-miR-548at-3p	PAR-CLIP	23592263
MIRT456357	hsa-miR-548ay-3p	PAR-CLIP	23592263
MIRT456356	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT456355	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT456354	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT456352	hsa-miR-3148	PAR-CLIP	23592263
MIRT456353	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT449733	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT449731	hsa-miR-4635	PAR-CLIP	22100165
MIRT449732	hsa-miR-493-3p	PAR-CLIP	22100165
MIRT449730	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT449729	hsa-miR-6126	PAR-CLIP	22100165
MIRT449728	hsa-miR-6864-5p	PAR-CLIP	22100165
MIRT449727	hsa-miR-578	PAR-CLIP	22100165
MIRT735119	hsa-miR-153-3p	Luciferase reporter assayqRT-PCR	32849774
MIRT735241	hsa-miR-1248	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)RNA-seqImmunofluorescenceFlow cytometry	32294623
MIRT558725	hsa-miR-6882-5p	PAR-CLIP	21572407
MIRT558724	hsa-let-7c-3p	PAR-CLIP	21572407
MIRT558723	hsa-let-7a-2-3p	PAR-CLIP	21572407
MIRT558722	hsa-let-7g-3p	PAR-CLIP	21572407
MIRT558721	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT558720	hsa-miR-182-5p	PAR-CLIP	21572407
MIRT558719	hsa-miR-489-3p	PAR-CLIP	21572407
MIRT558718	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT558717	hsa-miR-4470	PAR-CLIP	21572407
MIRT456362	hsa-miR-548aa	PAR-CLIP	23592263
MIRT456361	hsa-miR-548ap-3p	PAR-CLIP	23592263
MIRT456360	hsa-miR-548t-3p	PAR-CLIP	23592263
MIRT456359	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT456358	hsa-miR-548at-3p	PAR-CLIP	23592263
MIRT456357	hsa-miR-548ay-3p	PAR-CLIP	23592263
MIRT456356	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT456355	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT456354	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT456352	hsa-miR-3148	PAR-CLIP	23592263
MIRT456353	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT449733	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT449731	hsa-miR-4635	PAR-CLIP	22100165
MIRT449732	hsa-miR-493-3p	PAR-CLIP	22100165
MIRT449730	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT449729	hsa-miR-6126	PAR-CLIP	22100165
MIRT449728	hsa-miR-6864-5p	PAR-CLIP	22100165
MIRT449727	hsa-miR-578	PAR-CLIP	22100165
MIRT893976	hsa-miR-105	CLIP-seq
MIRT893977	hsa-miR-1273f	CLIP-seq
MIRT893978	hsa-miR-153	CLIP-seq
MIRT893979	hsa-miR-1908	CLIP-seq
MIRT893980	hsa-miR-2113	CLIP-seq
MIRT893981	hsa-miR-3180	CLIP-seq
MIRT893982	hsa-miR-3180-3p	CLIP-seq
MIRT893983	hsa-miR-3196	CLIP-seq
MIRT893984	hsa-miR-34a	CLIP-seq
MIRT893985	hsa-miR-34c-5p	CLIP-seq
MIRT893986	hsa-miR-3646	CLIP-seq
MIRT893987	hsa-miR-3662	CLIP-seq
MIRT893988	hsa-miR-3944-5p	CLIP-seq
MIRT893989	hsa-miR-3960	CLIP-seq
MIRT893990	hsa-miR-4447	CLIP-seq
MIRT893991	hsa-miR-4467	CLIP-seq
MIRT893992	hsa-miR-4472	CLIP-seq
MIRT893993	hsa-miR-4488	CLIP-seq
MIRT893994	hsa-miR-449a	CLIP-seq
MIRT893995	hsa-miR-449b	CLIP-seq
MIRT893996	hsa-miR-4651	CLIP-seq
MIRT893997	hsa-miR-4697-5p	CLIP-seq
MIRT893998	hsa-miR-608	CLIP-seq
MIRT893999	hsa-miR-663	CLIP-seq
MIRT894000	hsa-miR-888	CLIP-seq
MIRT894001	hsa-miR-889	CLIP-seq
MIRT894002	hsa-miR-3156-5p	CLIP-seq
MIRT894003	hsa-miR-3609	CLIP-seq
MIRT894004	hsa-miR-4318	CLIP-seq
MIRT894005	hsa-miR-4475	CLIP-seq
MIRT894006	hsa-miR-4521	CLIP-seq
MIRT894007	hsa-miR-4693-5p	CLIP-seq
MIRT894008	hsa-miR-4711-3p	CLIP-seq
MIRT894009	hsa-miR-4766-5p	CLIP-seq
MIRT894010	hsa-miR-548ah	CLIP-seq
MIRT894011	hsa-miR-548t	CLIP-seq
MIRT894012	hsa-miR-892a	CLIP-seq
MIRT894013	hsa-miR-1200	CLIP-seq
MIRT894014	hsa-miR-1257	CLIP-seq
MIRT894015	hsa-miR-1262	CLIP-seq
MIRT894016	hsa-miR-1305	CLIP-seq
MIRT894017	hsa-miR-1321	CLIP-seq
MIRT894018	hsa-miR-145	CLIP-seq
MIRT894019	hsa-miR-3074-5p	CLIP-seq
MIRT894020	hsa-miR-3124-3p	CLIP-seq
MIRT894021	hsa-miR-3126-5p	CLIP-seq
MIRT894022	hsa-miR-3136-3p	CLIP-seq
MIRT894023	hsa-miR-3145-3p	CLIP-seq
MIRT894024	hsa-miR-3153	CLIP-seq
MIRT894025	hsa-miR-328	CLIP-seq
MIRT894003	hsa-miR-3609	CLIP-seq
MIRT894026	hsa-miR-3689d	CLIP-seq
MIRT894027	hsa-miR-3922-5p	CLIP-seq
MIRT894028	hsa-miR-4419a	CLIP-seq
MIRT894029	hsa-miR-4434	CLIP-seq
MIRT894005	hsa-miR-4475	CLIP-seq
MIRT894030	hsa-miR-4510	CLIP-seq
MIRT894031	hsa-miR-4516	CLIP-seq
MIRT894032	hsa-miR-4531	CLIP-seq
MIRT894033	hsa-miR-4701-3p	CLIP-seq
MIRT894034	hsa-miR-4739	CLIP-seq
MIRT894035	hsa-miR-4756-5p	CLIP-seq
MIRT894036	hsa-miR-4773	CLIP-seq
MIRT894037	hsa-miR-495	CLIP-seq
MIRT894038	hsa-miR-548ac	CLIP-seq
MIRT894039	hsa-miR-548ae	CLIP-seq
MIRT894010	hsa-miR-548ah	CLIP-seq
MIRT894040	hsa-miR-548aj	CLIP-seq
MIRT894041	hsa-miR-548am	CLIP-seq
MIRT894042	hsa-miR-548d-3p	CLIP-seq
MIRT894043	hsa-miR-548x	CLIP-seq
MIRT894044	hsa-miR-548z	CLIP-seq
MIRT894045	hsa-miR-640	CLIP-seq
MIRT894014	hsa-miR-1257	CLIP-seq
MIRT894015	hsa-miR-1262	CLIP-seq
MIRT1546442	hsa-miR-1283	CLIP-seq
MIRT894017	hsa-miR-1321	CLIP-seq
MIRT1546443	hsa-miR-199a-3p	CLIP-seq
MIRT1546444	hsa-miR-199b-3p	CLIP-seq
MIRT1546445	hsa-miR-3129-5p	CLIP-seq
MIRT894026	hsa-miR-3689d	CLIP-seq
MIRT894027	hsa-miR-3922-5p	CLIP-seq
MIRT1546446	hsa-miR-410	CLIP-seq
MIRT1546447	hsa-miR-4427	CLIP-seq
MIRT894033	hsa-miR-4701-3p	CLIP-seq
MIRT1546448	hsa-miR-4724-5p	CLIP-seq
MIRT894034	hsa-miR-4739	CLIP-seq
MIRT894035	hsa-miR-4756-5p	CLIP-seq
MIRT1546449	hsa-miR-548ad	CLIP-seq
MIRT1965025	hsa-miR-1275	CLIP-seq
MIRT894016	hsa-miR-1305	CLIP-seq
MIRT894022	hsa-miR-3136-3p	CLIP-seq
MIRT1965026	hsa-miR-3185	CLIP-seq
MIRT894025	hsa-miR-328	CLIP-seq
MIRT1965027	hsa-miR-4259	CLIP-seq
MIRT1546447	hsa-miR-4427	CLIP-seq
MIRT893990	hsa-miR-4447	CLIP-seq
MIRT893992	hsa-miR-4472	CLIP-seq
MIRT1965028	hsa-miR-4474-5p	CLIP-seq
MIRT893996	hsa-miR-4651	CLIP-seq
MIRT1965029	hsa-miR-4665-5p	CLIP-seq
MIRT1965030	hsa-miR-4671-5p	CLIP-seq
MIRT1965031	hsa-miR-4680-3p	CLIP-seq
MIRT1965032	hsa-miR-4704-3p	CLIP-seq
MIRT894036	hsa-miR-4773	CLIP-seq
MIRT1965033	hsa-miR-548c-3p	CLIP-seq
MIRT893998	hsa-miR-608	CLIP-seq
MIRT894000	hsa-miR-888	CLIP-seq
MIRT894001	hsa-miR-889	CLIP-seq
MIRT894013	hsa-miR-1200	CLIP-seq
MIRT2201069	hsa-miR-1206	CLIP-seq
MIRT894016	hsa-miR-1305	CLIP-seq
MIRT2201070	hsa-miR-144	CLIP-seq
MIRT2201071	hsa-miR-1913	CLIP-seq
MIRT2201072	hsa-miR-203	CLIP-seq
MIRT2201073	hsa-miR-3064-3p	CLIP-seq
MIRT894019	hsa-miR-3074-5p	CLIP-seq
MIRT894020	hsa-miR-3124-3p	CLIP-seq
MIRT2201074	hsa-miR-3129-3p	CLIP-seq
MIRT894022	hsa-miR-3136-3p	CLIP-seq
MIRT2201075	hsa-miR-324-3p	CLIP-seq
MIRT894025	hsa-miR-328	CLIP-seq
MIRT2201076	hsa-miR-3675-5p	CLIP-seq
MIRT2201077	hsa-miR-3692	CLIP-seq
MIRT2201078	hsa-miR-4252	CLIP-seq
MIRT894005	hsa-miR-4475	CLIP-seq
MIRT2201079	hsa-miR-4677-3p	CLIP-seq
MIRT2201080	hsa-miR-4679	CLIP-seq
MIRT2201081	hsa-miR-4715-3p	CLIP-seq
MIRT894036	hsa-miR-4773	CLIP-seq
MIRT2201082	hsa-miR-4776-3p	CLIP-seq
MIRT1965033	hsa-miR-548c-3p	CLIP-seq
MIRT894045	hsa-miR-640	CLIP-seq
MIRT894001	hsa-miR-889	CLIP-seq
MIRT2201083	hsa-miR-938	CLIP-seq
MIRT894016	hsa-miR-1305	CLIP-seq
MIRT1965033	hsa-miR-548c-3p	CLIP-seq
MIRT894016	hsa-miR-1305	CLIP-seq
MIRT1965033	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
ELK1	Unknown	16740701
HDAC9	Repression	18054336
NR5A1	Activation	18984668

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Show/Hide all (123)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	22735262
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	17906695
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISS
GO:0001568	Process	Blood vessel development	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001666	Process	Response to hypoxia	IDA	9887100
GO:0001666	Process	Response to hypoxia	IMP	17906695
GO:0001701	Process	In utero embryonic development	IEA
GO:0001829	Process	Trophectodermal cell differentiation	IEA
GO:0001841	Process	Neural tube formation	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	ISS
GO:0001892	Process	Embryonic placenta development	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002521	Process	Leukocyte differentiation	IEA
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	IEA
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003156	Process	Regulation of animal organ formation	IEA
GO:0003156	Process	Regulation of animal organ formation	ISS
GO:0003197	Process	Endocardial cushion development	IEA
GO:0003281	Process	Ventricular septum development	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	11581164, 11694877, 12586840, 15051727, 22735262
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	9887100, 22735262
GO:0003714	Function	Transcription corepressor activity	IMP	17906695
GO:0005515	Function	Protein binding	IPI	9887100, 11694877, 12586840, 12762840, 15051727, 17932483, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9434189, 9887100, 22735262
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	12586840
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IMP	12586840
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007417	Process	Central nervous system development	IEA
GO:0007422	Process	Peripheral nervous system development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	16287139
GO:0007507	Process	Heart development	ISS
GO:0007530	Process	Sex determination	IBA
GO:0007530	Process	Sex determination	IEA
GO:0007530	Process	Sex determination	ISS
GO:0008283	Process	Cell population proliferation	IDA	15051727
GO:0008584	Process	Male gonad development	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	15051727
GO:0010629	Process	Negative regulation of gene expression	IDA	15051727
GO:0019904	Function	Protein domain specific binding	IPI	14594809
GO:0021602	Process	Cranial nerve morphogenesis	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030325	Process	Adrenal gland development	IEA
GO:0030336	Process	Negative regulation of cell migration	IMP	18054336
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0030851	Process	Granulocyte differentiation	IEA
GO:0032991	Component	Protein-containing complex	IMP	14594809
GO:0034405	Process	Response to fluid shear stress	IMP	12960175
GO:0035035	Function	Histone acetyltransferase binding	IDA	22735262
GO:0035360	Process	Positive regulation of peroxisome proliferator activated receptor signaling pathway	IDA	15051727
GO:0035802	Process	Adrenal cortex formation	IEA
GO:0035802	Process	Adrenal cortex formation	ISS
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0038092	Process	Nodal signaling pathway	IEA
GO:0038092	Process	Nodal signaling pathway	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043627	Process	Response to estrogen	IDA	11581164
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045787	Process	Positive regulation of cell cycle	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	15051727
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	9887100
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9434189, 15051727
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22735262
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046332	Function	SMAD binding	IEA
GO:0046697	Process	Decidualization	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048536	Process	Spleen development	ISS
GO:0048538	Process	Thymus development	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0048821	Process	Erythrocyte development	IEA
GO:0050693	Function	LBD domain binding	IPI	15051727
GO:0060065	Process	Uterus development	IEA
GO:0060136	Process	Embryonic process involved in female pregnancy	IEA
GO:0060349	Process	Bone morphogenesis	IEA
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060971	Process	Embryonic heart tube left/right pattern formation	IEA
GO:0060971	Process	Embryonic heart tube left/right pattern formation	ISS
GO:0060972	Process	Left/right pattern formation	IBA
GO:0061156	Process	Pulmonary artery morphogenesis	IEA
GO:0061308	Process	Cardiac neural crest cell development involved in heart development	IEA
GO:0061371	Process	Determination of heart left/right asymmetry	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0070986	Process	Left/right axis specification	IEA
GO:0070986	Process	Left/right axis specification	ISS
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071456	Process	Cellular response to hypoxia	IDA	22735262
GO:0090398	Process	Cellular senescence	IEA
GO:0140677	Function	Molecular function activator activity	EXP	14594809
GO:2000020	Process	Positive regulation of male gonad development	IEA
GO:2000020	Process	Positive regulation of male gonad development	ISS

MIM	HGNC	e!Ensembl
602937	1987	ENSG00000164442

Q99967

Protein name

Cbp/p300-interacting transactivator 2 (MSG-related protein 1) (MRG-1) (P35srj)

Protein function

Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activatio

PDB

1P4Q , 1R8U , 7LVS , 7QGS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04487	CITED	1 → 270	CITED	Family

Sequence

MADHMMAMNHGRFPDGTNGLHHHPAHRMGMGQFPSPHHHQQQQPQHAFNALMGEHIHYGA
GNMNATSGIRHAMGPGTVNGGHPPSALAPAARFNNSQFMGPPVASQGGSLPASMQLQKLN
NQYFNHHPYPHNHYMPDLHPAAGHQMNGTNQHFRDCNPKHSGGSSTPGGSGGSSTPGGSG
SSSGGGAGSSNSGGGSGSGNMPASVAHVPAAMLPPNVIDTDFIDEEVLMSLVIEMGLDRI
KELPELWLGQNEFDFMTDFVCKQQPSRVSC

Sequence length

270

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal		Regulation of gene expression by Hypoxia-inducible Factor TFAP2 (AP-2) family regulates transcription of other transcription factors Activation of the TFAP2 (AP-2) family of transcription factors FOXO-mediated transcription of cell death genes

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial septal defect 8	Likely pathogenic	rs1583066622	RCV000991200

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CITED2-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs749590293, rs1131400, rs751501072, rs1778327009, rs2482757608, rs373786537, rs774298334, rs779637348, rs932716941, rs1184341654, rs111814036, rs530008417	RCV003928846 RCV003980793 RCV003903635 RCV003404606 RCV003402756 RCV003414388 RCV003397717 RCV003969407 RCV003969467 RCV004755039 RCV003928165 RCV003910568
Ventricular septal defect 2	Uncertain significance; Likely benign	rs779637348, rs531316452, rs771034141	RCV000007113 RCV005357087 RCV003456317 RCV005358073

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XX Testicular Disorders of Sex Development	Associate	18984668
Adrenal Gland Neoplasms	Associate	18984668, 24848765
Atrioventricular Septal Defect	Associate	39333893
Axial Spondyloarthritis	Associate	25142923
Breast Neoplasms	Inhibit	16675452
Breast Neoplasms	Associate	19904269, 23811274, 27627783
Carcinoma	Associate	26501226
Carcinoma Hepatocellular	Inhibit	23212831
Carcinoma Squamous Cell	Associate	31885738
Cardiomyopathies	Inhibit	25884818
Colorectal Neoplasms	Associate	18054336, 24966994
Depressive Disorder	Associate	23064081
Diabetic Nephropathies	Associate	39378104
Ductus Arteriosus Patent	Associate	39333893
Endometriosis	Associate	36930359
Epilepsy Idiopathic Generalized	Stimulate	17110434
Heart Defects Congenital	Associate	24456003, 24848765, 39333893
Heart Diseases	Associate	24456003, 24848765, 33439552
Heart Septal Defects Atrial	Associate	29536580, 39333893
Heart Septal Defects Ventricular	Associate	23899608, 29536580, 33439552, 39333893
Hyperinsulinism	Inhibit	18334611
Hypoxia	Associate	21925214
Hypoxia Brain	Inhibit	21925214
Hypoxia Brain	Associate	39333893
Intracranial Aneurysm	Associate	39847889
Mood Disorders	Associate	23064081
Neoplasm Metastasis	Associate	30291252
Neoplasms	Stimulate	16675452
Neoplasms	Associate	19904269, 23811274, 24966994, 25119594
Neoplasms	Inhibit	23212831
Neural crest tumor	Associate	24848765
Neurologic Manifestations	Associate	23064081
Ovarian Diseases	Associate	22246450
Ovarian Neoplasms	Associate	17110434, 34609082
Prostatic Neoplasms	Associate	30291252
Spondylitis Ankylosing	Associate	25142923
Stomach Neoplasms	Associate	24260584
Tetralogy of Fallot	Associate	29536580, 39333893

CITED2 (Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2)