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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	85358
Gene name	SH3 and multiple ankyrin repeat domains 3
Gene symbol	SHANK3
Synonyms (NCBI Gene)	DEL22q13.3PROSAP2PSAP2SCZD15SPANK-2
Chromosome	22
Chromosome location	22q13.33
Summary	This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled

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Show/Hide all (162)

miRTarBase ID	miRNA	Experiments
MIRT1346231	hsa-miR-1249	CLIP-seq
MIRT1346232	hsa-miR-1269	CLIP-seq
MIRT1346233	hsa-miR-1269b	CLIP-seq
MIRT1346234	hsa-miR-128	CLIP-seq
MIRT1346235	hsa-miR-1288	CLIP-seq
MIRT1346236	hsa-miR-1294	CLIP-seq
MIRT1346237	hsa-miR-134	CLIP-seq
MIRT1346238	hsa-miR-1343	CLIP-seq
MIRT1346239	hsa-miR-1538	CLIP-seq
MIRT1346240	hsa-miR-1908	CLIP-seq
MIRT1346241	hsa-miR-27a	CLIP-seq
MIRT1346242	hsa-miR-27b	CLIP-seq
MIRT1346243	hsa-miR-3118	CLIP-seq
MIRT1346244	hsa-miR-3141	CLIP-seq
MIRT1346245	hsa-miR-3150b-3p	CLIP-seq
MIRT1346246	hsa-miR-3151	CLIP-seq
MIRT1346247	hsa-miR-3173-3p	CLIP-seq
MIRT1346248	hsa-miR-3180	CLIP-seq
MIRT1346249	hsa-miR-3180-3p	CLIP-seq
MIRT1346250	hsa-miR-3196	CLIP-seq
MIRT1346251	hsa-miR-331-3p	CLIP-seq
MIRT1346252	hsa-miR-3661	CLIP-seq
MIRT1346253	hsa-miR-3670	CLIP-seq
MIRT1346254	hsa-miR-3689d	CLIP-seq
MIRT1346255	hsa-miR-3690	CLIP-seq
MIRT1346256	hsa-miR-378	CLIP-seq
MIRT1346257	hsa-miR-378b	CLIP-seq
MIRT1346258	hsa-miR-378c	CLIP-seq
MIRT1346259	hsa-miR-378d	CLIP-seq
MIRT1346260	hsa-miR-378e	CLIP-seq
MIRT1346261	hsa-miR-378f	CLIP-seq
MIRT1346262	hsa-miR-378h	CLIP-seq
MIRT1346263	hsa-miR-378i	CLIP-seq
MIRT1346264	hsa-miR-3940-5p	CLIP-seq
MIRT1346265	hsa-miR-422a	CLIP-seq
MIRT1346266	hsa-miR-4269	CLIP-seq
MIRT1346267	hsa-miR-4292	CLIP-seq
MIRT1346268	hsa-miR-4302	CLIP-seq
MIRT1346269	hsa-miR-4308	CLIP-seq
MIRT1346270	hsa-miR-4316	CLIP-seq
MIRT1346271	hsa-miR-4447	CLIP-seq
MIRT1346272	hsa-miR-4472	CLIP-seq
MIRT1346273	hsa-miR-4507	CLIP-seq
MIRT1346274	hsa-miR-4515	CLIP-seq
MIRT1346275	hsa-miR-4640-5p	CLIP-seq
MIRT1346276	hsa-miR-4685-5p	CLIP-seq
MIRT1346277	hsa-miR-4689	CLIP-seq
MIRT1346278	hsa-miR-4704-5p	CLIP-seq
MIRT1346279	hsa-miR-4726-5p	CLIP-seq
MIRT1346280	hsa-miR-4730	CLIP-seq
MIRT1346281	hsa-miR-4740-5p	CLIP-seq
MIRT1346282	hsa-miR-4745-3p	CLIP-seq
MIRT1346283	hsa-miR-4755-3p	CLIP-seq
MIRT1346284	hsa-miR-4784	CLIP-seq
MIRT1346285	hsa-miR-491-5p	CLIP-seq
MIRT1346286	hsa-miR-543	CLIP-seq
MIRT1346287	hsa-miR-552	CLIP-seq
MIRT1346288	hsa-miR-582-5p	CLIP-seq
MIRT1346289	hsa-miR-619	CLIP-seq
MIRT1346290	hsa-miR-631	CLIP-seq
MIRT1346291	hsa-miR-663	CLIP-seq
MIRT1346292	hsa-miR-744	CLIP-seq
MIRT1553679	hsa-miR-3177-3p	CLIP-seq
MIRT1346248	hsa-miR-3180	CLIP-seq
MIRT1346249	hsa-miR-3180-3p	CLIP-seq
MIRT1346250	hsa-miR-3196	CLIP-seq
MIRT1346271	hsa-miR-4447	CLIP-seq
MIRT1346272	hsa-miR-4472	CLIP-seq
MIRT1553680	hsa-miR-4481	CLIP-seq
MIRT1553681	hsa-miR-4651	CLIP-seq
MIRT1553682	hsa-miR-4745-5p	CLIP-seq
MIRT1553683	hsa-miR-608	CLIP-seq
MIRT1346234	hsa-miR-128	CLIP-seq
MIRT1346236	hsa-miR-1294	CLIP-seq
MIRT2102426	hsa-miR-1915	CLIP-seq
MIRT1346241	hsa-miR-27a	CLIP-seq
MIRT1346242	hsa-miR-27b	CLIP-seq
MIRT1346245	hsa-miR-3150b-3p	CLIP-seq
MIRT1553679	hsa-miR-3177-3p	CLIP-seq
MIRT1346248	hsa-miR-3180	CLIP-seq
MIRT1346249	hsa-miR-3180-3p	CLIP-seq
MIRT1346250	hsa-miR-3196	CLIP-seq
MIRT1346270	hsa-miR-4316	CLIP-seq
MIRT1346271	hsa-miR-4447	CLIP-seq
MIRT1346272	hsa-miR-4472	CLIP-seq
MIRT1553680	hsa-miR-4481	CLIP-seq
MIRT1553681	hsa-miR-4651	CLIP-seq
MIRT1346277	hsa-miR-4689	CLIP-seq
MIRT1553682	hsa-miR-4745-5p	CLIP-seq
MIRT2102427	hsa-miR-4768-3p	CLIP-seq
MIRT1346284	hsa-miR-4784	CLIP-seq
MIRT1553683	hsa-miR-608	CLIP-seq
MIRT2326978	hsa-miR-1207-3p	CLIP-seq
MIRT1346234	hsa-miR-128	CLIP-seq
MIRT2326979	hsa-miR-1285	CLIP-seq
MIRT1346236	hsa-miR-1294	CLIP-seq
MIRT1346241	hsa-miR-27a	CLIP-seq
MIRT1346242	hsa-miR-27b	CLIP-seq
MIRT1346245	hsa-miR-3150b-3p	CLIP-seq
MIRT2326980	hsa-miR-3187-5p	CLIP-seq
MIRT1346270	hsa-miR-4316	CLIP-seq
MIRT2326981	hsa-miR-4438	CLIP-seq
MIRT2326982	hsa-miR-4470	CLIP-seq
MIRT2326983	hsa-miR-4505	CLIP-seq
MIRT1346277	hsa-miR-4689	CLIP-seq
MIRT1346284	hsa-miR-4784	CLIP-seq
MIRT2326984	hsa-miR-612	CLIP-seq
MIRT2326985	hsa-miR-615-5p	CLIP-seq
MIRT2394441	hsa-miR-1234	CLIP-seq
MIRT1553679	hsa-miR-3177-3p	CLIP-seq
MIRT1346248	hsa-miR-3180	CLIP-seq
MIRT1346249	hsa-miR-3180-3p	CLIP-seq
MIRT1346250	hsa-miR-3196	CLIP-seq
MIRT1346271	hsa-miR-4447	CLIP-seq
MIRT1346272	hsa-miR-4472	CLIP-seq
MIRT1553680	hsa-miR-4481	CLIP-seq
MIRT2394442	hsa-miR-4632	CLIP-seq
MIRT1553681	hsa-miR-4651	CLIP-seq
MIRT1553682	hsa-miR-4745-5p	CLIP-seq
MIRT2394443	hsa-miR-4749-3p	CLIP-seq
MIRT2394444	hsa-miR-4763-5p	CLIP-seq
MIRT1553683	hsa-miR-608	CLIP-seq
MIRT1346237	hsa-miR-134	CLIP-seq
MIRT2102426	hsa-miR-1915	CLIP-seq
MIRT1346243	hsa-miR-3118	CLIP-seq
MIRT2459303	hsa-miR-3164	CLIP-seq
MIRT2459304	hsa-miR-3169	CLIP-seq
MIRT2459305	hsa-miR-3664-3p	CLIP-seq
MIRT2459306	hsa-miR-3664-5p	CLIP-seq
MIRT2459307	hsa-miR-4270	CLIP-seq
MIRT2459308	hsa-miR-4433	CLIP-seq
MIRT2459309	hsa-miR-4436a	CLIP-seq
MIRT2459310	hsa-miR-4441	CLIP-seq
MIRT2459311	hsa-miR-4459	CLIP-seq
MIRT1553680	hsa-miR-4481	CLIP-seq
MIRT1346274	hsa-miR-4515	CLIP-seq
MIRT2459312	hsa-miR-4522	CLIP-seq
MIRT2459313	hsa-miR-4695-5p	CLIP-seq
MIRT1553682	hsa-miR-4745-5p	CLIP-seq
MIRT2102427	hsa-miR-4768-3p	CLIP-seq
MIRT2102426	hsa-miR-1915	CLIP-seq
MIRT2622302	hsa-miR-4464	CLIP-seq
MIRT2622303	hsa-miR-4726-3p	CLIP-seq
MIRT2622304	hsa-miR-4748	CLIP-seq
MIRT2622305	hsa-miR-548ac	CLIP-seq
MIRT2622306	hsa-miR-548ae	CLIP-seq
MIRT2622307	hsa-miR-548aj	CLIP-seq
MIRT2622308	hsa-miR-548am	CLIP-seq
MIRT2622309	hsa-miR-548d-3p	CLIP-seq
MIRT2622310	hsa-miR-548x	CLIP-seq
MIRT2622311	hsa-miR-548z	CLIP-seq
MIRT2102426	hsa-miR-1915	CLIP-seq
MIRT2622302	hsa-miR-4464	CLIP-seq
MIRT2622303	hsa-miR-4726-3p	CLIP-seq
MIRT2622304	hsa-miR-4748	CLIP-seq
MIRT2622305	hsa-miR-548ac	CLIP-seq
MIRT2622306	hsa-miR-548ae	CLIP-seq
MIRT2622307	hsa-miR-548aj	CLIP-seq
MIRT2622308	hsa-miR-548am	CLIP-seq
MIRT2622309	hsa-miR-548d-3p	CLIP-seq
MIRT2622310	hsa-miR-548x	CLIP-seq
MIRT2622311	hsa-miR-548z	CLIP-seq

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	ISS
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 21653829, 21988832, 28130356, 28514442, 30021884, 30058071, 33961781, 36950384
GO:0005515	Function	Protein binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	ISS
GO:0007416	Process	Synapse assembly	ISS
GO:0007612	Process	Learning	IMP	17173049, 21378602
GO:0007612	Process	Learning	ISS
GO:0007613	Process	Memory	ISS
GO:0008270	Function	Zinc ion binding	ISS
GO:0008306	Process	Associative learning	IBA
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0017124	Function	SH3 domain binding	IEA
GO:0017124	Function	SH3 domain binding	ISS
GO:0021773	Process	Striatal medium spiny neuron differentiation	ISS
GO:0030160	Function	Synaptic receptor adaptor activity	IBA
GO:0030160	Function	Synaptic receptor adaptor activity	ISS
GO:0030534	Process	Adult behavior	IEA
GO:0030534	Process	Adult behavior	IMP	17173049, 21378602
GO:0032232	Process	Negative regulation of actin filament bundle assembly	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	IMP	17173049, 21378602
GO:0035176	Process	Social behavior	ISS
GO:0035255	Function	Ionotropic glutamate receptor binding	IBA
GO:0035255	Function	Ionotropic glutamate receptor binding	ISS
GO:0042297	Process	Vocal learning	IMP	17173049, 21378602
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IEA
GO:0044309	Component	Neuron spine	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045794	Process	Negative regulation of cell volume	ISS
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	ISS
GO:0048854	Process	Brain morphogenesis	ISS
GO:0050808	Process	Synapse organization	IBA
GO:0050885	Process	Neuromuscular process controlling balance	ISS
GO:0050890	Process	Cognition	IEA
GO:0051835	Process	Positive regulation of synapse structural plasticity	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS	21795692
GO:0060170	Component	Ciliary membrane	ISS
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0060999	Process	Positive regulation of dendritic spine development	ISS	21795692
GO:0061001	Process	Regulation of dendritic spine morphogenesis	ISS	21795692
GO:0071625	Process	Vocalization behavior	IEA
GO:0071625	Process	Vocalization behavior	IMP	17173049, 21378602
GO:0071625	Process	Vocalization behavior	ISS	21167025
GO:0097107	Process	Postsynaptic density assembly	ISS
GO:0097110	Function	Scaffold protein binding	ISS
GO:0097113	Process	AMPA glutamate receptor clustering	ISS
GO:0097114	Process	NMDA glutamate receptor clustering	ISS
GO:0097117	Process	Guanylate kinase-associated protein clustering	ISS
GO:1900271	Process	Regulation of long-term synaptic potentiation	ISS
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1900451	Process	Positive regulation of glutamate receptor signaling pathway	ISS	21795692
GO:1900452	Process	Regulation of long-term synaptic depression	ISS	21795692
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS	21795692

MIM	HGNC	e!Ensembl
606230	14294	ENSG00000251322

Q9BYB0

Protein name

SH3 and multiple ankyrin repeat domains protein 3 (Shank3) (Proline-rich synapse-associated protein 2) (ProSAP2)

Protein function

Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including

PDB

6CPK , 7C7I , 7C7J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	119 → 213	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	254 → 344	Ankyrin repeats (3 copies)	Repeat
PF07653	SH3_2	475 → 528	Variant SH3 domain	Domain
PF17820	PDZ_6	609 → 662	PDZ domain	Domain
PF00536	SAM_1	1666 → 1729	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the cerebral cortex and the cerebellum.

Sequence

MDGPGASAVVVRVGIPDLQQTKCLRLDPAAPVWAAKQRVLCALNHSLQDALNYGLFQPPS
RGRAGKFLDEERLLQEYPPNLDTPLPYLEFRYKRRVYAQNLIDDKQFAKLHTKANLKKFM
DYVQLHSTDKVARLLDKGLDPNFHDPDSGECPLSLAAQLDNATDLLKVLKNGGAHLDFRT
RDGLTAVHCATRQRNAAALTTLLDLGASPDYKDSRGLTPLYHSALGGGDALCCELLLHDH
AQLGITDENGWQEIHQACRFGHVQHLEHLLFYGADMGAQNASGNTALHICALYNQESCAR
VLLFRGANRDVRNYNSQTAFQVAIIAGNFELAEVIKTHKDSDVVPFRETPSYAKRRRLAG
PSGLASPRPLQRSASDINLKGEAQPAASPGPSLRSLPHQLLLQRLQEEKDRDRDADQESN
ISGPLAGRAGQSKISPSGPGGPGPAPGPGPAPPAPPAPPPRGPKRKLYSAVPGRKFIAVK
AHSPQGEGEIPLHRGEAVKVLSIGEGGFWEGTVKGRTGWFPADCVEEVQMRQHDTRPETR
EDRTKRLFRHYTVGSYDSLTSHSDYVIDDKVAVLQKRDHEGFGFVLRGAKAETPIEEFTP
TPAFPALQYLESVDVEGVAWRAGLRTGDFLIEVNGVNVVKVGHKQVVALIRQGGNRLVMK
VVSVTRKPEEDGARRRAPPPPKRAPSTTLTLRSKSMTAELEELASIRRRKGEKLDEMLAA
AAEPTLRPDIADADSRAATVKQRPTSRRITPAEISSLFERQGLPGPEKLPGSLRKGIPRT
KSVGEDEKLASLLEGRFPRSTSMQDPVREGRGIPPPPQTAPPPPPAPYYFDSGPPPAFSP
PPPPGRAYDTVRSSFKPGLEARLGAGAAGLYEPGAALGPLPYPERQKRARSMIILQDSAP
ESGDAPRPPPAATPPERPKRRPRPPGPDSPYANLGAFSASLFAPSKPQRRKSPLVKQLQV
EDAQERAALAVGSPGPGGGSFAREPSPTHRGPRPGGLDYGAGDGPGLAFGGPGPAKDRRL
EERRRSTVFLSVGAIEGSAPGADLPSLQPSRSIDERLLGTGPTAGRDLLLPSPVSALKPL
VSGPSLGPSGSTFIHPLTGKPLDPSSPLALALAARERALASQAPSRSPTPVHSPDADRPG
PLFVDVQARDPERGSLASPAFSPRSPAWIPVPARREAEKVPREERKSPEDKKSMILSVLD
TSLQRPAGLIVVHATSNGQEPSRLGGAEEERPGTPELAPAPMQSAAVAEPLPSPRAQPPG
GTPADAGPGQGSSEEEPELVFAVNLPPAQLSSSDEETREELARIGLVPPPEEFANGVLLA
TPLAGPGPSPTTVPSPASGKPSSEPPPAPESAADSGVEEADTRSSSDPHLETTSTISTVS
SMSTLSSESGELTDTHTSFADGHTFLLEKPPVPPKPKLKSPLGKGPVTFRDPLLKQSSDS
ELMAQQHHAASAGLASAAGPARPRYLFQRRSKLWGDPVESRGLPGPEDDKPTVISELSSR
LQQLNKDTRSLGEEPVGGLGSLLDPAKKSPIAAARLFSSLGELSSISAQRSPGGPGGGAS
YSVRPSGRYPVARRAPSPVKPASLERVEGLGAGAGGAGRPFGLTPPTILKSSSLSIPHEP
KEVRFVVRSVSARSRSPSPSPLPSPASGPGPGAPGPRRPFQQKPLQLWSKFDVGDWLESI
HLGEHRDRFEDHEIEGAHLPALTKDDFVELGVTRVGHRMNIERALRQLDGS

Sequence length

1731

Interactions

View interactions

	KEGG
	Glutamatergic synapse

275

Show/Hide Causal Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral white matter morphology	Likely pathogenic	rs377573165	RCV001003641
Autism spectrum disorder	Pathogenic; Likely pathogenic	rs762292772, rs1555910143, rs2083275928	RCV000754675 RCV000754674 RCV003127737
Autistic behavior	Likely pathogenic; Pathogenic	rs1294272918	RCV001281083
Global developmental delay	Likely pathogenic; Pathogenic	rs1569097392	RCV001003640
Hyperammonemia	Likely pathogenic	rs377573165	RCV001003641
Intellectual disability	Pathogenic; Likely pathogenic	rs1385882031, rs1555910048, rs886041238, rs2518430518, rs387906932, rs762292772, rs1396379503, rs377573165, rs2083275928, rs2083278122, rs2083280269, rs2083283892, rs2083292400, rs2083293616	RCV001376176 RCV000224952 RCV001257673 RCV005622263 RCV001257625 RCV001257626 RCV005626142 RCV001003641 RCV001257674 RCV001257628 RCV001257630 RCV001257672 RCV001257671 RCV001257627
Moderate global developmental delay	Pathogenic	rs1555910162	RCV000449604
Mutism	Pathogenic	rs1555910162	RCV000449604
Neurodegeneration	Likely pathogenic	rs377573165	RCV001003641
Neurodevelopmental abnormality	Likely pathogenic; Pathogenic	rs1396379503	RCV005235459
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs2146843340, rs762292772	RCV002274372 RCV002274045
Neurodevelopmental disorder	Pathogenic	rs762292772	RCV001374986
Phelan-McDermid syndrome	Pathogenic; Likely pathogenic	rs2082934908, rs1038102194, rs2146833747, rs200400333, rs2146794652, rs2146832853, rs2146817773, rs2146831793, rs2146832070, rs2146830613, rs2518425257, rs2518427323, rs2518426434, rs2518425642, rs2518425246 View all (48 more)	RCV001330232 RCV005253852 RCV001533003 RCV001706756 RCV001785873 RCV001783744 RCV001808981 RCV001813907 RCV002244090 RCV002246198 RCV002287586 RCV002288289 RCV002288315 RCV002289246 RCV002289284 RCV002291155 RCV002444404 RCV002465391 RCV002465444 RCV002465449 RCV002466368 RCV000004730 RCV003128028 RCV003140498 RCV003131445 RCV003148172 RCV003223516 RCV001249687 RCV003311620 RCV003314531 RCV003333833 RCV003387627 RCV003444184 RCV003883333 RCV003885401 RCV003985154 RCV003985982 RCV003988700 RCV004006242 RCV004555080 RCV004595239 RCV001823001 RCV000990465 RCV000417048 RCV000417108 RCV000760213 RCV000503512 RCV000850601 RCV000767538 RCV000043653 RCV000043655 RCV000984485 RCV000990464 RCV003485674 RCV001028094 RCV001249902 RCV001251635 RCV001251636 RCV001252998 RCV001253156 RCV001260490 RCV001270426 RCV005055396 RCV001291836
Psychotic disorder	Pathogenic	rs1555910162	RCV000449604
Schizophrenia 15	Pathogenic; Likely pathogenic	rs2146832070, rs762292772, rs2518429694, rs1064796872, rs1555910162, rs387906932, rs387906933, rs2083280147	RCV003883191 RCV002503748 RCV003883333 RCV004006242 RCV000760213 RCV000023519 RCV000023520 RCV002490842 RCV001270426
See cases	Pathogenic	rs2146772777, rs886041238	RCV001420222 RCV003128400
Seizure	Likely pathogenic; Pathogenic	rs1569097392	RCV001003640
SHANK3-related disorder	Pathogenic; Likely pathogenic	rs762292772, rs886041238, rs2518439821, rs2518371253, rs2518439217, rs1555910143, rs2083361357	RCV004734844 RCV000845003 RCV004529794 RCV004539004 RCV004531885 RCV000509224 RCV004538550

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Atypical behavior	Uncertain significance	rs1262141039, rs1555910094	RCV002211057 RCV000626984
Autism	Uncertain significance; Benign; Likely benign	rs1005062028, rs367676023, rs1264636649, rs906873431, rs201973139	RCV000590920 RCV000590960 RCV000590901 RCV000590917 RCV000590957
Cholangiocarcinoma	Benign	rs916588	RCV005916520
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	rs1054399689	RCV005626453
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs202089750, rs199499215	RCV004557944 RCV004557945
Familial cancer of breast	Benign; Likely benign	rs371172305	RCV005911500
Hand tremor	Uncertain significance	rs1555910094	RCV000626984
History of neurodevelopmental disorder	Benign; Likely benign	rs201282170	RCV000719336
Long QT syndrome	Likely benign	rs1555909545	RCV000190162
Macrocephaly	Uncertain significance	rs1555910094	RCV000626984
Ovarian serous cystadenocarcinoma	Benign	rs13055562	RCV005861248
Uterine corpus endometrial carcinoma	Benign	rs916588	RCV005916521

Show/Hide Text Mining Associations (69)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	28948968
Adenocarcinoma of Lung	Associate	27058892
Agraphia	Associate	33673024
Anxiety Disorders	Associate	39350236
Apraxias	Associate	22738016
Asperger Syndrome	Associate	17173049
Attention Deficit Disorder with Hyperactivity	Associate	35042901, 39350236
Autism Spectrum Disorder	Associate	17173049, 17999366, 18252227, 19384346, 22503632, 22892527, 24132240, 24186872, 25646853, 25947967, 25997006, 26306707, 26489495, 27790361, 27876814 View all (22 more)
Autistic Disorder	Associate	17999366, 19384346, 22558107, 22738016, 22892527, 27333044, 27554343, 27790361, 28345660, 28948968, 28963116, 29423971, 30064494, 30643170, 33673024 View all (6 more)
Bipolar Disorder	Associate	32050889, 34559195
Catatonia	Associate	25947967, 32050889
Chromosome Deletion	Associate	11431708
Cognition Disorders	Associate	25997006
Cognitive Dysfunction	Associate	34369668
Colorectal Neoplasms	Associate	25997006
Congenital Abnormalities	Associate	29423971
Constipation	Associate	29423971
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	29719671
Dementia	Associate	26489495
Depressive Disorder	Associate	34559195
Developmental Disabilities	Associate	16284256, 26489495, 27086544, 29423971, 30875393, 33256793, 35042901
Diabetic Neuropathies	Associate	37033211
Diabetic Retinopathy	Associate	37033211
Dyslexia	Associate	33673024
Elliptocytosis 1	Associate	31678916
Embryo Loss	Associate	26489495
Epilepsy	Associate	27554343, 28963116
Epilepsy Absence	Associate	27554343
Epilepsy Rolandic	Associate	22738016
Failure to Thrive	Associate	29423971
Genetic Diseases Inborn	Associate	33673024
Hematologic Diseases	Associate	33388374
Heredodegenerative Disorders Nervous System	Associate	30875393
Hernia Inguinal	Associate	29423971
Hydronephrosis	Associate	40049821
Hyperkinesis	Associate	33256793
Hypersensitivity Delayed	Associate	29378768
Immunologic Deficiency Syndromes	Associate	33388374
Intellectual Disability	Associate	16284256, 22503632, 24132240, 24253858, 26489495, 27554343, 28963116, 29378768, 29423971, 29719671, 31990460, 32560742, 33176815, 33673024, 34246244 View all (6 more)
Kidney Diseases	Associate	29719671, 37120079
Language Development Disorders	Associate	26489495, 33256793
Language Disorders	Associate	21779178, 29423971, 33673024
Learning Disabilities	Associate	33673024
Leukemia Myeloid Acute	Associate	30760869
Lymphedema	Associate	37003575, 39350236
Memory Disorders	Associate	34593045
Mental Disorders	Associate	25947967, 31678916, 32050889, 34369668, 36355061, 37003575, 39350236
Myoclonic dystonia	Associate	35773312
Neoplasms	Inhibit	27058892
Nervous System Diseases	Associate	21779178
Neurobehavioral Manifestations	Associate	26306707
Neurologic Manifestations	Associate	12920066, 24132240, 29719671
Pediatric acute onset neuropsychiatric syndrome	Associate	34369668, 35773312
Progressive hearing loss stapes fixation	Associate	33176815
Reflex Abnormal	Associate	16284256
Retrograde Degeneration	Associate	30643170
Schizophrenia	Associate	24132240, 29032150
Seizures	Associate	27554343
Signs and Symptoms	Associate	30875393
Sleep Wake Disorders	Associate	35996993
Social Communication Disorder	Associate	17173049
Speech Disorders	Associate	29719671, 36871884
Telomeric 22q13 Monosomy Syndrome	Associate	11431708, 12920066, 16284256, 25947967, 26306707, 26824576, 27577546, 27741506, 28345660, 28963116, 29126394, 29378768, 29423971, 29719671, 30064494 View all (36 more)
Telomeric 22q13 Monosomy Syndrome	Stimulate	20186804, 34128868
Telomeric 22q13 Monosomy Syndrome	Inhibit	24132240
Tooth Abnormalities	Associate	33388374
Urogenital Abnormalities	Associate	37003575
Williams Syndrome	Associate	27876814
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Associate	28345660

SHANK3 (SH3 and multiple ankyrin repeat domains 3)