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 (NCBI Gene): 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, 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

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

• 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

Pathways

KEGG:

Glutamatergic synapse

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal cerebral white matter morphology	Likely pathogenic	rs377573165	RCV001003641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic; Likely pathogenic	rs762292772, rs1555910143, rs2083275928	RCV000754675 RCV000754674 RCV003127737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Likely pathogenic; Pathogenic	rs1294272918	RCV001281083	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs1569097392	RCV001003640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperammonemia	Likely pathogenic	rs377573165	RCV001003641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Moderate global developmental delay	Pathogenic	rs1555910162	RCV000449604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mutism	Pathogenic	rs1555910162	RCV000449604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration	Likely pathogenic	rs377573165	RCV001003641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic; Pathogenic	rs1396379503	RCV005235459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs2146843340, rs762292772	RCV002274372 RCV002274045	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs762292772	RCV001374986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Phelan-McDermid syndrome	Pathogenic; Likely pathogenic	rs2082934908, rs1038102194, rs2146833747, rs200400333, rs2146794652, rs2146832853, rs2146817773, rs2146831793, rs2146832070, rs2146830613, rs2518425257, rs2518427323, rs2518426434, rs2518425642, rs2518425246, rs2518426728, rs2518417913, rs2518428935, rs2518427524, rs2518427933, rs2518438901, rs762292772, rs2518438898, rs2518439453, rs2518428922, rs2518427341, rs2518429854, rs886041238, rs2518427127, rs2518425438, rs2518429888, rs2518439281, rs2518429961, rs2518429694, rs2518439090, rs2518430518, rs2518426852, rs2518426468, rs1064796872, rs2518428548, rs2518371261, rs1001153999, rs1555910143, rs1057519395, rs1057519406, rs1555910162, rs1396379503, rs1569115756, rs1555910212, rs397514705, rs1603447380, rs1603445997, rs1603447144, rs1603447135, rs763158627, rs2083287955, rs2083360139, rs2083287837, rs373588048, rs2083293616, rs2083280147, rs1294272918, rs2083140726	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Psychotic disorder	Pathogenic	rs1555910162	RCV000449604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia 15	Pathogenic; Likely pathogenic	rs2146832070, rs762292772, rs2518429694, rs1064796872, rs1555910162, rs387906932, rs387906933, rs2083280147	RCV003883191 RCV002503748 RCV003883333 RCV004006242 RCV000760213 RCV000023519 RCV000023520 RCV002490842 RCV001270426	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1569097392	RCV001003640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHANK3-related disorder	Pathogenic; Likely pathogenic	rs762292772, rs886041238, rs2518439821, rs2518371253, rs2518439217, rs1555910143, rs2083361357	RCV004734844 RCV000845003 RCV004529794 RCV004539004 RCV004531885 RCV000509224 RCV004538550	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
22Q13.3 DELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical behavior	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hand tremor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DEVELOPMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELOMERIC 22Q13 MONOSOMY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	CLINGEN_DG	11431708, 21606927, 23758760, 24132240, 25188300, 26045941, 26725465, 26886798, 27161151, 29719671, 30302388		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	BEFREE	12920066, 18523453, 20635403, 21048139, 21271662, 22749736, 24124131, 24218108, 24700646, 25894671, 25947967, 26306707, 26350728, 26572867, 26847545, 26966193, 27021819, 27189882, 27562614, 27741506, 28753255, 28754298, 29052348, 29321759, 29377611, 29423971, 29735556, 29988084, 30064494, 30089781, 30356810, 30396833, 30696942, 31189958, 31275112, 31319798, 31649512, 31788990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	CTD_human_DG	16284256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	GENOMICS_ENGLAND_DG	17173049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	ORPHANET_DG	21841781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	UNIPROT_DG	22892527, 23758760, 24132240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	39350236	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	22738016	Associate	★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asperger Syndrome	Asperger Syndrome	BEFREE	17173049		★☆☆☆☆ Found in Text Mining only
Asperger Syndrome	Asperger syndrome	Pubtator	17173049	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	CLINVAR_DG	25356970		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	27562614		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG	25356970		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	27562614		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35042901, 39350236	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	24153177, 28400125, 30305163		★☆☆☆☆ Found in Text Mining only
Atypical absence seizure	Absence Seizure	BEFREE	27554343		★☆☆☆☆ Found in Text Mining only
Auditory Processing Disorder, Central	Auditory processing disorder	CTD_human_DG	16284256, 17173049		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	17173049, 17999366, 18252227, 19384346, 22503632, 22892527, 24132240, 24186872, 25646853, 25947967, 25997006, 26306707, 26489495, 27790361, 27876814, 28281572, 28948968, 29719671, 30064494, 30643170, 30763456, 31990460, 32553196, 32560742, 33256793, 33388374, 33568460, 34303785, 34948243, 35093163, 35123134, 35216282, 35741772, 35773312, 36750796, 37414777, 39363263	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	17173049, 17999366, 18252227, 18615476, 18957284, 19384346, 19432386, 21048139, 21575668, 22503632, 22749736, 22892527, 23468870, 23583105, 23897824, 24124131, 24132240, 24186872, 24218108, 24398551, 24726578, 25131214, 25188300, 25646853, 25894671, 26052099, 26306707, 26489495, 26572867, 26847545, 27021819, 27161151, 27189882, 27492494, 27530683, 27562614, 27592227, 27795858, 27846046, 27856360, 27876814, 27916453, 28130356, 28179641, 28414299, 28753255, 28948967, 28948968, 29121345, 29126394, 29321759, 29327340, 29377611, 29408620, 29531362, 29970989, 29988084, 30064494, 30134148, 30317697, 30329048, 30356810, 30364266, 30385192, 30405356, 30524232, 30537371, 30610205, 30629339, 30643170, 30809159, 30868621, 31052177, 31189958, 31275112, 31319798, 31354805, 31398341, 31602784, 31649512, 31722214, 31773410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	17173049, 18252227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	25356970, 30763456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	BEFREE	22749736, 25931020		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Autism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder	Autism	BEFREE	16059935, 17173049, 17999366, 18563458, 19384346, 19566951, 20385823, 21062623, 21565394, 21606927, 22558107, 23897824, 25188300, 26966193, 27161151, 27333044, 27492494, 27554343, 28345660, 28414301, 28754298, 28906292, 29377611, 29423971, 29531362, 29760409, 29787855, 29872123, 29988084, 30064494, 30643170, 30659288, 30696942, 30868621, 31061091		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	17999366, 19384346, 22558107, 22738016, 22892527, 27333044, 27554343, 27790361, 28345660, 28948968, 28963116, 29423971, 30064494, 30643170, 33673024, 34246244, 35982159, 36202854, 36355061, 36833418, 39350236	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18621663, 26027926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	22922660, 26572867, 27512916, 28701918, 29321759		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	32050889, 34559195	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Catatonia	Catatonia	Pubtator	25947967, 32050889	Associate	★☆☆☆☆ Found in Text Mining only
Catatonia	Catatonia	BEFREE	27519580		★☆☆☆☆ Found in Text Mining only
Cerebellar cortical atrophy	Cerebellar cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	16284256		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	16284256		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25997006	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	34369668	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28906292		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25997006	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	29423971	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19384346		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	29423971	Associate	★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	24700646		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28906292		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	22922660		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	26489495	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34559195	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	16284256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	16284256, 26489495, 27086544, 29423971, 30875393, 33256793, 35042901	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	22749736, 26489495		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	37033211	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37033211	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	11431708		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	33673024	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	31678916	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27554343, 27592227, 30696942		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27554343, 28963116	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	27554343	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	22738016	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	22738016		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	27592227		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	16284256, 25931020		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hematologic Diseases	Hematologic disease	Pubtator	33388374	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	Pubtator	40049821	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	33256793	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	29378768	Associate	★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29321759		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28906292		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16284256, 18523453, 21606927, 22503632, 22509352, 23897824, 25131214, 25188300, 25931020, 27021819, 27189882, 27492494, 27554343, 28754298, 29988084, 30537371, 31061091		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	LHGDN	16284256		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	16284256		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	16284256, 22503632, 24132240, 24253858, 26489495, 27554343, 28963116, 29378768, 29423971, 29719671, 31990460, 32560742, 33176815, 33673024, 34246244, 34303785, 35042901, 36202854, 36833418, 37003575, 40102980	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Diseases	Kidney disease	Pubtator	29719671, 37120079	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language Development Disorders	CTD_human_DG	16284256, 17173049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	26489495, 33256793	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language development disorders	Pubtator	21779178, 29423971, 33673024	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	22738016		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	33673024	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30760869	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	31788990		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	20635403		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	BEFREE	21984749		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	37003575, 39350236	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	22922660		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	22922660		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	22922660		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	22922660		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	22922660		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	22922660		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	22922660		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	24153177, 31275112		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	PSYGENET_DG	24153177		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	34593045	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	16284256		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	21606927, 27519580		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16284256, 18523453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	BEFREE	25188300		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	29423971		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monosomy 22q13.3	Monosomy 22q13.3	Orphanet			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	27530683		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	35773312	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27058892		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21779178	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29321759		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	20385823, 26306707, 27741506, 27846046, 29735556, 29787855, 30537371, 30875393		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis 2	Neurofibromatosis	BEFREE	23036697		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Autism	Autism	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	17999366, 22749736, 23468870, 24398551, 25646853, 26489495, 27530683, 27592227, 27876814, 28179641, 28753255, 29377611, 29408620, 30064494, 30317697, 31189958		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	22922660		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	21271662		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	16284256		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	25188300, 26489495		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	33176815	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent pyelonephritis	Pyelonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	25931020, 30537371		★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	BEFREE	26094094		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20385823, 21606927, 21901269, 24124131, 24132240, 25882257, 26572867, 28371232, 29111324, 29321759, 29735556, 30537371, 31275112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24132240, 29032150	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 15	Schizophrenia	UNIPROT_DG	20385823		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SCHIZOPHRENIA 15	Schizophrenia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures	Seizures	Pubtator	27554343	Associate	★☆☆☆☆ Found in Text Mining only
Severe expressive language delay	Expressive language delay	BEFREE	12065602		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	18523453, 19428206, 24124131, 27554343		★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	BEFREE	17173049, 22749736, 30537371		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CTD_human_DG	16284256, 17173049		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	18523453, 21378602, 22749736		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	11431708, 12920066, 16284256, 25947967, 26306707, 26824576, 27577546, 27741506, 28345660, 28963116, 29126394, 29378768, 29423971, 29719671, 30064494, 30089781, 30396833, 30875393, 31319798, 31678916, 32050889, 32560742, 33256793, 33407854, 33663540, 33669083, 33910615, 34206779, 34246244, 34303785, 34369668, 34559195, 34593045, 35093163, 35328081, 35395866, 35840778, 35996993, 36044808, 36355061, 36833418, 36871884, 37003575, 37085014, 37120079, 37670319, 37769384, 38002941, 39350236, 39363263, 40102980	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	20186804, 34128868	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	24132240	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Timothy syndrome	Timothy Syndrome	BEFREE	28753255		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	30305163		★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	33388374	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11431708, 21984749, 24375995		★☆☆☆☆ Found in Text Mining only
Trichotillomania	Trichotillomania	HPO_DG			★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	28701918		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	37003575	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	27876814	Associate	★☆☆☆☆ Found in Text Mining only