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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial septal defect 8	Likely pathogenic	rs1583066622	RCV000991200	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL SEPTAL DEFECT SINUS VENOSUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT, SINUS VENOSUS TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CITED2-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPE S	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SEPTAL DEFECT OF HEART	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECTS, VENTRICULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular septal defect 2	Uncertain significance; Likely benign	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (108)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Gland Diseases	Adrenal Gland Diseases	BEFREE	18984668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	17283246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27925775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27925775		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 8	Atrial Septal Defect	GENOMICS_ENGLAND_DG	24848765		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATRIAL SEPTAL DEFECT 8	Atrial Septal Defect	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect Sinus Venosus	Sinus venosus atrial septal defect	ORPHANET_DG	16287139		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial septal defect, ostium secundum type	Atrial Septal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial septal defect, sinus venosus type	Atrial Septal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	39333893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	21660965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19642106, 19904269, 27216153, 27627783, 28008154, 29399152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16675452	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19904269, 23811274, 27627783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	26501226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23212831	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31885738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	15750185, 22735262, 31378782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	25884818	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30967472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23792300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18054336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18054336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18054336, 24966994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	27848077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	16287139, 21224256, 22735262, 27680315, 31515672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	21224256, 22735262, 24456003, 24848765, 28687891, 31378782, 31515672		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conotruncal defect	Conotruncal defect	BEFREE	28436679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16287139, 22735262, 23082118, 24456003, 24848765, 28687891, 31378782, 31515672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	23064081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27561725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27561725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27561725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	39378104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	39333893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36930359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	17110434	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	19117321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	24456003, 24848765, 39333893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24456003, 24848765, 33439552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	16287139		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Septal Defects	Heart Septal Defects	CTD_human_DG	16287139		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	29536580, 39333893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	23899608, 29536580, 33439552, 39333893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	18334611	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21925214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27848077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	39847889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	25884818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	27848077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25184385, 29072699, 30986495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29510736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28013219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	31313299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	17283246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19642106, 19904269, 27216153, 27627783, 28008154, 29399152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31524101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30291252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28501104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30177819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21165656, 26384430, 28501104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	21660965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18054336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19642106, 19904269, 28008154, 29399152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	30291252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	23064081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular ventricular septum defect	Muscular ventricular septal defect	BEFREE	15750185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	26331539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19904269, 22465428, 26384430, 27216153, 28008154, 29399152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	21660965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	20932315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	28512747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27561725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19904269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	ORPHANET_DG	16287139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	22246450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	22709740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17110434, 34609082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Perimembranous ventricular septal defect	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	22665973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	22709740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30291252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30291252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Venous Return Anomaly	Pulmonary Venous Return Anomaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	21165656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	BEFREE	19117321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	25142923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28501104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24260584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	29536580		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	29536580, 39333893	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30177819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30177819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21165656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	23792300		★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR SEPTAL DEFECT 2	Ventricular septal defect	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular Septal Defects	Ventricular septal defect	BEFREE	23899608		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

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