SYN1 (synapsin I)

Gene

• Entrez ID: 6853
• Gene name: Synapsin I
• Gene symbol: SYN1
• Synonyms (NCBI Gene): EPILX, EPILX1, MRX50, SYN1a, SYN1b, SYNI
• Chromosome: X
• Chromosome location: Xp11.3-p11.23
• Summary: This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptog

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41298474	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs137852560	C>T	Pathogenic	Coding sequence variant, stop gained
rs145911562	T>C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs150248483	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs200533370	T>C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs375440874	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514679	G>A	Pathogenic	Stop gained, coding sequence variant
rs397514680	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs587781185	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs757027813	G>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs886042481	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1064797369	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1183386473	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1556857412	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556857481	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556860638	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556860663	T>A	Likely-pathogenic	Splice acceptor variant
rs1569322834	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603050544	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603051674	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603078587	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1603078614	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018882	hsa-miR-335-5p	Microarray	18185580
MIRT733606	hsa-miR-140-5p	Immunofluorescence, qRT-PCR, Western blotting	33987369
MIRT1405388	hsa-miR-1290	CLIP-seq
MIRT1405389	hsa-miR-140-3p	CLIP-seq
MIRT1405390	hsa-miR-1915	CLIP-seq
MIRT1405391	hsa-miR-197	CLIP-seq
MIRT1405392	hsa-miR-296-3p	CLIP-seq
MIRT1405393	hsa-miR-3154	CLIP-seq
MIRT1405394	hsa-miR-3170	CLIP-seq
MIRT1405395	hsa-miR-3937	CLIP-seq
MIRT1405396	hsa-miR-4260	CLIP-seq
MIRT1554366	hsa-miR-1827	CLIP-seq
MIRT1554367	hsa-miR-4257	CLIP-seq
MIRT1554368	hsa-miR-4496	CLIP-seq
MIRT1554369	hsa-miR-4738-3p	CLIP-seq
MIRT1554370	hsa-miR-940	CLIP-seq
MIRT2121599	hsa-miR-4704-3p	CLIP-seq
MIRT2343630	hsa-miR-2110	CLIP-seq
MIRT2343631	hsa-miR-3150a-3p	CLIP-seq
MIRT1405394	hsa-miR-3170	CLIP-seq
MIRT2343632	hsa-miR-4450	CLIP-seq
MIRT2343633	hsa-miR-4667-5p	CLIP-seq
MIRT2343634	hsa-miR-4700-5p	CLIP-seq
MIRT2343635	hsa-miR-4799-5p	CLIP-seq
MIRT2343630	hsa-miR-2110	CLIP-seq
MIRT2343631	hsa-miR-3150a-3p	CLIP-seq
MIRT1405394	hsa-miR-3170	CLIP-seq
MIRT2343632	hsa-miR-4450	CLIP-seq
MIRT2343635	hsa-miR-4799-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Activation	8195167
REST	Unknown	21693630

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000795	Component	Synaptonemal complex	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	23406870
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	15217342
GO:0005794	Component	Golgi apparatus	IEA
GO:0005856	Component	Cytoskeleton	IDA	24327345
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	2110562
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	TAS	16141272
GO:0014069	Component	Postsynaptic density	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044297	Component	Cell body	IEA
GO:0045202	Component	Synapse	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	TAS	21563316
GO:0048306	Function	Calcium-dependent protein binding	IEA
GO:0048666	Process	Neuron development	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050808	Process	Synapse organization	IBA
GO:0050808	Process	Synapse organization	IEA
GO:0097091	Process	Synaptic vesicle clustering	IBA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098693	Process	Regulation of synaptic vesicle cycle	IEA
GO:0098793	Component	Presynapse	IDA	21441247
GO:0098793	Component	Presynapse	IEA
GO:0098850	Component	Extrinsic component of synaptic vesicle membrane	IEA
GO:0099504	Process	Synaptic vesicle cycle	IEA
GO:0106006	Function	Cytoskeletal protein-membrane anchor activity	TAS	2110562
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IMP	21441247
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	NAS	10099709

Other IDs

• MIM: 313440
• HGNC: 11494
• e!Ensembl: ENSG00000008056

Protein

• UniProt ID: P17600
• Protein name: Synapsin-1 (Brain protein 4.1) (Synapsin I)
• Protein function: Neuronal phosphoprotein that coats synaptic vesicles, and binds to the cytoskeleton. Acts as a regulator of synaptic vesicles trafficking, involved in the control of neurotransmitter release at the pre-synaptic terminal (PubMed:21441247, PubMed:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10581	Synapsin_N	1 → 32	Synapsin N-terminal	Domain
  PF02078	Synapsin	111 → 212	Synapsin, N-terminal domain	Domain
  PF02750	Synapsin_C	214 → 416	Synapsin, ATP binding domain	Domain

• Sequence:

  MNYLRRRLSDSNFMANLPNGYMTDLQRPQPPPPPPGAHSPGATPGPGTATAERSSGVAPA
  ASPAAPSPGSSGGGGFFSSLSNAVKQTTAAAAATFSEQVGGGSGGAGRGGAASRVLLVID
  EPHTDWAKYFKGKKIHGEIDIKVEQAEFSDLNLVAHANGGFSVDMEVLRNGVKVVRSLKP
  DFVLIRQHAFSMARNGDYRSLVIGLQYAGIPSVNSLHSVYNFCDKPWVFAQMVRLHKKLG
  TEEFPLIDQTFYPNHKEMLSSTTYPVVVKMGHAHSGMGKVKVDNQHDFQDIASVVALTKT
  YATAEPFIDAKYDVRVQKIGQNYKAYMRTSVSGNWKTNTGSAMLEQIAMSDRYKLWVDTC
  SEIFGGLDICAVEALHGKDGRDHIIEVVGSSMPLIGDHQDEDKQLIVELVVNKMAQALPR
  QRQRDASPGRGSHGQTPSPGALPLGRQTSQQPAGPPAQQRPPPQGGPPQPGPGPQRQGPP
  LQQRPPPQGQQHLSGLGPPAGSPLPQRLPSPTSAPQQPASQAAPPTQGQGRQSRPVAGGP
  GAPPAARPPASPSPQRQAGPPQATRQTSVSGPAPPKASGAPPGGQQRQGPPQKPPGPAGP
  TRQASQAGPVPRTGPPTTQQPRPSGPGPAGRPKPQLAQKPSQDVPPPATAAAGGPPHPQL
  NKSQSLTNAFNLPEPAPPRPSLSQDEVKAETIRSLRKSFASLFSD

• Sequence length: 705

Pathways

Reactome:

Serotonin Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle

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
Epilepsy	Pathogenic	rs2147912740	RCV004798924	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	Pathogenic; Likely pathogenic	rs2147912005, rs2147912333, rs2147927599, rs2147928664, rs2147912740, rs941190653, rs2147933505, rs2147913419, rs2147912165, rs2147912678, rs2147912440, rs923033810, rs2519712575, rs2519685866, rs2519686907, rs2519684728, rs2519684553, rs2519685402, rs2519685103, rs2519706400, rs2519685183, rs2519685837, rs757027813, rs2519685971, rs2519705505, rs1456167867, rs137852560, rs2519712556, rs2519684825, rs2519712469, rs2519685812, rs2519686550, rs2519684932, rs2519685918, rs1183386473, rs1556860663, rs1556857481, rs397514679, rs1556860638, rs1603050544, rs1603078587, rs1603051674, rs2057771219, rs2057900552, rs2057941229, rs2057942403	RCV001379126 RCV001378193 RCV001380293 RCV001388304 RCV001733750 RCV003772104 RCV001786325 RCV002468644 RCV002007256 RCV001972459 RCV002001459 RCV002508162 RCV002508164 RCV002508166 RCV002508169 RCV002508170 RCV002508171 RCV002508172 RCV002291324 RCV002291326 RCV002291327 RCV002291328 RCV002291273 RCV002837594 RCV003064162 RCV003040987 RCV000010542 RCV003509886 RCV003510848 RCV003510299 RCV003622768 RCV003622677 RCV003622963 RCV003623202 RCV005091219 RCV000555972 RCV000590941 RCV000034815 RCV003313114 RCV000805246 RCV001002794 RCV001027689 RCV002508156 RCV001204925 RCV001227508 RCV002508159	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2057891984	RCV001260825	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 50	Pathogenic; Likely pathogenic	rs2147927599, rs941190653, rs2519686818, rs753517348, rs1556860638, rs2057891984, rs2057941303	RCV002246361 RCV001762014 RCV002508167 RCV004515771 RCV003313114 RCV002508157 RCV001291935	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Pathogenic	rs2057771219	RCV001201164	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SYN1-related disorder	Likely pathogenic; Pathogenic	rs2147913419, rs397514679	RCV003401758 RCV003407398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Uncertain significance	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 50	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYN1-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked complex neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
X-LINKED EPILEPSY WITH LEARNING DISABILITY AND BEHAVIOR DISORDER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED EPILEPSY-LEARNING DISABILITIES-BEHAVIOR DISORDERS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	39863324	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31830091		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26096837, 29671924	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21441247, 23818987, 24312498, 26096837, 28922833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21441247, 23406870, 23956174, 28973667		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31969655	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26823711	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24083474		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24083474	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	11157493	Associate	★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	24088370		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	36123899	Inhibit	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	31545395		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	17392736, 18713831, 23406870, 7777057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	23406870		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	36742338	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	27685921		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	26096837, 29671924	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	21441247, 26096837		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	14985377, 21441247, 23818987, 23956174, 24312498, 28922833, 28973667, 29163811		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	14985377, 22571925, 26096837, 29671924, 31969655, 36742338	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders	Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders	ORPHANET_DG	14985377		★☆☆☆☆ Found in Text Mining only
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders	Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders	GENOMICS_ENGLAND_DG	21441247		★☆☆☆☆ Found in Text Mining only
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders	Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders	Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	9270031		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	27265443		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	10436342		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27685921, 30463513	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27685921		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27685921	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	24081492		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	28847282		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31270156		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30922570, 31545395		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28973667		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31906484, 34946860, 36742338	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Disorders	Language development disorders	Pubtator	26096837, 29671924	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	36742338	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24083474		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24083474, 27685921		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	9270031		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24722758		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	17392736, 18713831, 23406870, 7777057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	23406870		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	31231257		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	9415477		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	9415477		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	37894766	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29066310		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36992419	Inhibit	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	23404338		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19301426, 30028969, 9820593		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24361760		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	BEFREE	9270031		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	17543079		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	39863324, 40715263	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	23818987, 26096837		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	24361760		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	2111640, 27379379, 3095840, 3124657		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	9270031		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20921223, 22807112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20921223, 22807112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22571925	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	26096837, 34078716	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	26096837	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	8759778		★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	BEFREE	26096837		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30392635		★☆☆☆☆ Found in Text Mining only
Tonic-Clonic Epilepsy	Tonic-Clonic Epilepsy	BEFREE	29163811		★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	29609584		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	17543079		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	20662849		★☆☆☆☆ Found in Text Mining only
X-linked epilepsy-learning disabilities-behavior disorders syndrome	Epilepsy-Learning Disabilities-Behavior Disorders Syndrome, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations