CPLX1 (complexin 1)

Gene

• Entrez ID: 10815
• Gene name: Complexin 1
• Gene symbol: CPLX1
• Synonyms (NCBI Gene): CPX-I, CPX1, DEE63, EIEE63
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT489947	hsa-miR-3141	PAR-CLIP	23592263
MIRT489946	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT489945	hsa-miR-6749-5p	PAR-CLIP	23592263
MIRT489943	hsa-miR-6499-5p	PAR-CLIP	23592263
MIRT489944	hsa-miR-6132	PAR-CLIP	23592263
MIRT489942	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT489941	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT489940	hsa-miR-3960	PAR-CLIP	23592263
MIRT489939	hsa-miR-8072	PAR-CLIP	23592263
MIRT489938	hsa-miR-4767	PAR-CLIP	23592263
MIRT489937	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT489936	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT489935	hsa-miR-4467	PAR-CLIP	23592263
MIRT489934	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT489933	hsa-miR-3178	PAR-CLIP	23592263
MIRT489947	hsa-miR-3141	PAR-CLIP	23592263
MIRT489946	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT489945	hsa-miR-6749-5p	PAR-CLIP	23592263
MIRT489943	hsa-miR-6499-5p	PAR-CLIP	23592263
MIRT489944	hsa-miR-6132	PAR-CLIP	23592263
MIRT489942	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT489941	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT489940	hsa-miR-3960	PAR-CLIP	23592263
MIRT489939	hsa-miR-8072	PAR-CLIP	23592263
MIRT489938	hsa-miR-4767	PAR-CLIP	23592263
MIRT489937	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT489936	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT489935	hsa-miR-4467	PAR-CLIP	23592263
MIRT489934	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT489933	hsa-miR-3178	PAR-CLIP	23592263
MIRT906243	hsa-miR-135a	CLIP-seq
MIRT906244	hsa-miR-135b	CLIP-seq
MIRT906245	hsa-miR-1538	CLIP-seq
MIRT906246	hsa-miR-15a	CLIP-seq
MIRT906247	hsa-miR-15b	CLIP-seq
MIRT906248	hsa-miR-16	CLIP-seq
MIRT906249	hsa-miR-1915	CLIP-seq
MIRT906250	hsa-miR-195	CLIP-seq
MIRT906251	hsa-miR-3065-5p	CLIP-seq
MIRT906252	hsa-miR-34b	CLIP-seq
MIRT906253	hsa-miR-3943	CLIP-seq
MIRT906254	hsa-miR-421	CLIP-seq
MIRT906255	hsa-miR-424	CLIP-seq
MIRT906256	hsa-miR-4270	CLIP-seq
MIRT906257	hsa-miR-4272	CLIP-seq
MIRT906258	hsa-miR-4324	CLIP-seq
MIRT906259	hsa-miR-4434	CLIP-seq
MIRT906260	hsa-miR-4441	CLIP-seq
MIRT906261	hsa-miR-4480	CLIP-seq
MIRT906262	hsa-miR-4516	CLIP-seq
MIRT906263	hsa-miR-4679	CLIP-seq
MIRT906264	hsa-miR-4687-3p	CLIP-seq
MIRT906265	hsa-miR-4694-5p	CLIP-seq
MIRT906266	hsa-miR-4729	CLIP-seq
MIRT906267	hsa-miR-4745-3p	CLIP-seq
MIRT906268	hsa-miR-497	CLIP-seq
MIRT906269	hsa-miR-518a-5p	CLIP-seq
MIRT906270	hsa-miR-527	CLIP-seq
MIRT906271	hsa-miR-647	CLIP-seq
MIRT1968598	hsa-miR-1293	CLIP-seq
MIRT1968599	hsa-miR-1343	CLIP-seq
MIRT1968600	hsa-miR-1469	CLIP-seq
MIRT1968601	hsa-miR-3124-5p	CLIP-seq
MIRT1968602	hsa-miR-3180	CLIP-seq
MIRT1968603	hsa-miR-3180-3p	CLIP-seq
MIRT1968604	hsa-miR-3196	CLIP-seq
MIRT1968605	hsa-miR-323-5p	CLIP-seq
MIRT1968606	hsa-miR-4483	CLIP-seq
MIRT1968607	hsa-miR-4508	CLIP-seq
MIRT1968608	hsa-miR-4731-5p	CLIP-seq
MIRT1968609	hsa-miR-541	CLIP-seq
MIRT1968610	hsa-miR-615-5p	CLIP-seq
MIRT1968611	hsa-miR-637	CLIP-seq
MIRT1968612	hsa-miR-654-5p	CLIP-seq
MIRT1968613	hsa-miR-744	CLIP-seq
MIRT1968614	hsa-miR-938	CLIP-seq
MIRT2204681	hsa-miR-1914	CLIP-seq
MIRT2204682	hsa-miR-3689d	CLIP-seq
MIRT2204683	hsa-miR-4255	CLIP-seq
MIRT2204684	hsa-miR-4283	CLIP-seq
MIRT2204685	hsa-miR-4449	CLIP-seq
MIRT1968613	hsa-miR-744	CLIP-seq
MIRT2204686	hsa-miR-765	CLIP-seq
MIRT1968608	hsa-miR-4731-5p	CLIP-seq
MIRT2508126	hsa-miR-3119	CLIP-seq
MIRT2508127	hsa-miR-3120-5p	CLIP-seq
MIRT2508128	hsa-miR-346	CLIP-seq
MIRT2508129	hsa-miR-4288	CLIP-seq
MIRT2508130	hsa-miR-4421	CLIP-seq
MIRT2508131	hsa-miR-4487	CLIP-seq
MIRT2508132	hsa-miR-632	CLIP-seq
MIRT2508133	hsa-miR-767-3p	CLIP-seq
MIRT2508126	hsa-miR-3119	CLIP-seq
MIRT2508127	hsa-miR-3120-5p	CLIP-seq
MIRT2508128	hsa-miR-346	CLIP-seq
MIRT2508129	hsa-miR-4288	CLIP-seq
MIRT2508130	hsa-miR-4421	CLIP-seq
MIRT2508131	hsa-miR-4487	CLIP-seq
MIRT2508132	hsa-miR-632	CLIP-seq
MIRT2508133	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IBA
GO:0000149	Function	SNARE binding	IEA
GO:0005515	Function	Protein binding	IPI	21785412, 21785414
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006887	Process	Exocytosis	TAS	7553862
GO:0007268	Process	Chemical synaptic transmission	TAS	7553862
GO:0016079	Process	Synaptic vesicle exocytosis	IBA
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0017157	Process	Regulation of exocytosis	IEA
GO:0017157	Process	Regulation of exocytosis	TAS	15217342
GO:0019905	Function	Syntaxin binding	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031201	Component	SNARE complex	IBA
GO:0031201	Component	SNARE complex	IEA
GO:0031630	Process	Regulation of synaptic vesicle fusion to presynaptic active zone membrane	IBA
GO:0031630	Process	Regulation of synaptic vesicle fusion to presynaptic active zone membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043195	Component	Terminal bouton	IBA
GO:0043204	Component	Perikaryon	IEA
GO:0044305	Component	Calyx of Held	IEA
GO:0045202	Component	Synapse	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0070032	Component	Synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex	IEA
GO:0070554	Component	Synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex	IEA
GO:0070554	Component	Synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex	TAS	15217342
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099145	Process	Regulation of exocytic insertion of neurotransmitter receptor to postsynaptic membrane	IEA

Other IDs

• MIM: 605032
• HGNC: 2309
• e!Ensembl: ENSG00000168993

Protein

• UniProt ID: O14810
• Protein name: Complexin-1 (Complexin I) (CPX I) (Synaphin-2)
• Protein function: Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles (PubMed:21785414). Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the
• PDB: 3RK3, 3RL0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05835	Synaphin	1 → 133	Synaphin protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Nervous system. In hippocampus and cerebellum, expressed mainly by inhibitory neurons. Overexpressed in substantia nigra from patients with Parkinson disease. {ECO:0000269|PubMed:11483314, ECO:0000269|PubMed:15526345, ECO:0000269|PubMe
• Sequence:

  MEFVMKQALGGATKDMGKMLGGDEEKDPDAAKKEEERQEALRQAEEERKAKYAKMEAERE
  AVRQGIRDKYGIKKKEEREAEAQAAMEANSEGSLTRPKKAIPPGCGDEVEEEDESILDTV
  IKYLPGPLQDMLKK

• Sequence length: 134

Pathways

KEGG:

Synaptic vesicle cycle

Reactome:

Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
GABA synthesis, release, reuptake and degradation

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 brain morphology	Likely pathogenic	rs1060499735	RCV000454222	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 63	Likely pathogenic; Pathogenic	rs2475059446, rs1060499735, rs1553851860	RCV002283755 RCV000627075 RCV000627076	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
4p partial monosomy syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CPLX1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, MYOCLONIC, INFANTILE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia 18	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLF-HIRSCHHORN SYNDROME	—	CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31699905	Inhibit	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28608594		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28608594		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28422131	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	37960721	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	26577184		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28422131	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	28422131	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ectopic pupil	Congenital anomaly of eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	22832958	Inhibit	★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	17188502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	28608594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	28422131	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35721735	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26750116		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	28422131	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28422131		★☆☆☆☆ Found in Text Mining only
Epilepsy, Myoclonic, Infantile	Myoclonic Epilepsy	ORPHANET_DG	28422131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63	Epileptic encephalopathy	CLINVAR_DG	26539891, 28422131		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63	Epileptic encephalopathy	UNIPROT_DG	26539891, 28422131		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	28422131		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial infantile myoclonic epilepsy	Myoclonic Epilepsy	Orphanet			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	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	27866231		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	28422131		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32100372	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28422131		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	17188502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	28608594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	28422131		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32100372	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28108469		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28108469	Associate	★☆☆☆☆ Found in Text Mining only
Photosensitive tonic-clonic seizures	Photosensitive tonic-clonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pitt-Rogers-Danks Syndrome	Pitt-Rogers-Danks Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychosis, Brief Reactive	Psychosis	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rieger eye malformation sequence	Axenfeld anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11483314, 16442780, 21145444, 29118371, 9853440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophreniform Disorders	Schizophreniform Disorders	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	36797040	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations