SHANK3 (SH3 and multiple ankyrin repeat domains 3)

Gene

• Entrez ID: 85358
• Gene name: SH3 and multiple ankyrin repeat domains 3
• Gene symbol: SHANK3
• Synonyms: DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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, 21988832, 28130356
GO:0005829	Component	Cytosol	TAS
GO:0007411	Process	Axon guidance	TAS
GO:0007416	Process	Synapse assembly	ISS
GO:0007610	Process	Behavior	IBA	21873635
GO:0007612	Process	Learning	IMP	17173049, 21378602
GO:0007612	Process	Learning	ISS
GO:0007613	Process	Memory	ISS
GO:0008022	Function	Protein C-terminus binding	ISS
GO:0008270	Function	Zinc ion binding	ISS
GO:0008328	Component	Ionotropic glutamate receptor complex	IBA	21873635
GO:0014069	Component	Postsynaptic density	IBA	21873635
GO:0014069	Component	Postsynaptic density	ISS
GO:0017124	Function	SH3 domain binding	ISS
GO:0021773	Process	Striatal medium spiny neuron differentiation	ISS
GO:0030160	Function	Synaptic receptor adaptor activity	IBA	21873635
GO:0030160	Function	Synaptic receptor adaptor activity	ISS
GO:0030534	Process	Adult behavior	IMP	17173049, 21378602
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	ISS
GO:0032232	Process	Negative regulation of actin filament bundle assembly	ISS
GO:0035176	Process	Social behavior	IMP	17173049, 21378602
GO:0035176	Process	Social behavior	ISS
GO:0035255	Function	Ionotropic glutamate receptor binding	IBA	21873635
GO:0035255	Function	Ionotropic glutamate receptor binding	ISS
GO:0042297	Process	Vocal learning	IMP	17173049, 21378602
GO:0043005	Component	Neuron projection	ISS
GO:0043197	Component	Dendritic spine	IBA	21873635
GO:0043621	Function	Protein self-association	ISS
GO:0044309	Component	Neuron spine	ISS
GO:0045211	Component	Postsynaptic membrane	IBA	21873635
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	IBA	21873635
GO:0048854	Process	Brain morphogenesis	ISS
GO:0051124	Process	Synaptic growth at neuromuscular junction	IBA	21873635
GO:0051835	Process	Positive regulation of synapse structural plasticity	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IBA	21873635
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS	21795692
GO:0060170	Component	Ciliary membrane	ISS
GO:0060291	Process	Long-term synaptic potentiation	IBA	21873635
GO:0060997	Process	Dendritic spine morphogenesis	IBA	21873635
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0060999	Process	Positive regulation of dendritic spine development	IBA	21873635
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	IMP	17173049, 21378602
GO:0071625	Process	Vocalization behavior	ISS	21167025
GO:0097107	Process	Postsynaptic density assembly	IBA	21873635
GO:0097107	Process	Postsynaptic density assembly	ISS
GO:0097110	Function	Scaffold protein binding	ISS
GO:0097113	Process	AMPA glutamate receptor clustering	ISS	21795692
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:2000311	Process	Regulation of AMPA receptor activity	IBA	21873635
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IBA	21873635
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS	21795692
GO:2000969	Process	Positive regulation of AMPA receptor activity	ISS

Other IDs

• MIM: 606230
• HGNC: 14294
• e!Ensembl: ENSG00000251322

Protein

• UniProt ID: 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

• 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

Pathways

KEGG:

Glutamatergic synapse

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrial septal defect	Atrial Septal Defects, ATRIAL SEPTAL DEFECT 1	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125	25356970
Autism	NON RARE IN EUROPE: Autism, Autistic Disorder, Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	18621663, 26027926
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	18252227, 25356970, 30763456, 17173049
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Profound Mental Retardation, Mental deficiency, Mental Retardation, Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	16284256
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia	rs387907123
Schizophrenia	Schizophrenia, SCHIZOPHRENIA 15	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	31374203, 20385823
Trichotillomania	Trichotillomania	rs193302861
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease name	Disease term	dbSNP ID	References
22q13.3 deletion syndrome	22q13.3 Deletion Syndrome		29719671, 30302388, 23758760, 26725465, 27161151, 24132240, 21841781, 21606927, 26045941, 25188300, 17173049, 22892527, 26886798, 11431708, 16284256
Arachnoid cyst	Arachnoid Cysts
Auditory processing disorder	Auditory Processing Disorder, Central		17173049, 16284256
Camptodactyly of fingers	Clinodactyly of the 5th finger
Cerebellar cortical atrophy	Cerebellar cortical atrophy
Congenital epicanthus	Congenital Epicanthus
Congenital exomphalos	Congenital exomphalos
Development disorder	Developmental Disabilities, Child Development Deviations, Child Development Disorders, Specific		16284256
Dolichocephaly	Long narrow head
Gastroesophageal reflux disease	Gastroesophageal reflux disease
High palate	Byzanthine arch palate
Hydronephrosis	Hydronephrosis
Hyperopia	Hyperopia
Hypohidrosis	Hypohidrosis
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Language development disorders	Language Development Disorders		16284256, 17173049
Macrotia	Macrotia
Manic disorder	Manic		24153177
Monosomy 22q13.3	Monosomy 22q13.3
Motor delay	Clumsiness - motor delay
Psychosis	Psychotic Disorders
Ptosis	Blepharoptosis, Ptosis	rs139920573
Pyelonephritis	Recurrent pyelonephritis
Speech delay	Speech Delay		17173049, 16284256
Strabismus	Strabismus
Syndactyly of the toes	2-3 toe syndactyly