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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8867
Gene name	Synaptojanin 1
Gene symbol	SYNJ1
Synonyms (NCBI Gene)	DEE53EIEE53INPP5GPARK20
Chromosome	21
Chromosome location	21q22.11
Summary	This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding d

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SNP ID	Visualize variation	Clinical significance	Consequence
rs145937537	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398122403	C>T	Pathogenic	Missense variant, coding sequence variant
rs778394516	CTTAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039732	TTTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057524877	T>C	Pathogenic	Coding sequence variant, missense variant
rs1057524878	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057524879	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057524880	T>C	Pathogenic	Splice acceptor variant
rs1060499619	C>G	Pathogenic	Coding sequence variant, missense variant
rs1085307987	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1555907463	C>T	Pathogenic	Stop gained, coding sequence variant
rs1569075471	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1569086116	T>C	Likely-pathogenic	Splice acceptor variant

266

Show/Hide all (266)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027224	hsa-miR-103a-3p	Sequencing	20371350
MIRT028365	hsa-miR-32-5p	Sequencing	20371350
MIRT031926	hsa-miR-16-5p	Sequencing	20371350
MIRT049591	hsa-miR-92a-3p	CLASH	23622248
MIRT047739	hsa-miR-10a-5p	CLASH	23622248
MIRT046396	hsa-miR-15b-5p	CLASH	23622248
MIRT049591	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726405	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028365	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1406086	hsa-miR-1266	CLIP-seq
MIRT1406087	hsa-miR-133a	CLIP-seq
MIRT1406088	hsa-miR-133b	CLIP-seq
MIRT1406089	hsa-miR-148a	CLIP-seq
MIRT1406090	hsa-miR-148b	CLIP-seq
MIRT1406091	hsa-miR-152	CLIP-seq
MIRT1406092	hsa-miR-3074-3p	CLIP-seq
MIRT1406093	hsa-miR-3175	CLIP-seq
MIRT1406094	hsa-miR-330-3p	CLIP-seq
MIRT1406095	hsa-miR-365	CLIP-seq
MIRT1406096	hsa-miR-3651	CLIP-seq
MIRT1406097	hsa-miR-3938	CLIP-seq
MIRT1406098	hsa-miR-4325	CLIP-seq
MIRT1406099	hsa-miR-4424	CLIP-seq
MIRT1406100	hsa-miR-4518	CLIP-seq
MIRT1406101	hsa-miR-4527	CLIP-seq
MIRT1406102	hsa-miR-4682	CLIP-seq
MIRT1406103	hsa-miR-4699-5p	CLIP-seq
MIRT1406104	hsa-miR-4723-5p	CLIP-seq
MIRT1406105	hsa-miR-4753-3p	CLIP-seq
MIRT1406106	hsa-miR-510	CLIP-seq
MIRT1406107	hsa-miR-603	CLIP-seq
MIRT1406108	hsa-miR-103a	CLIP-seq
MIRT1406109	hsa-miR-107	CLIP-seq
MIRT1406110	hsa-miR-1208	CLIP-seq
MIRT1406111	hsa-miR-127-5p	CLIP-seq
MIRT1406112	hsa-miR-1279	CLIP-seq
MIRT1406113	hsa-miR-1286	CLIP-seq
MIRT1406114	hsa-miR-1293	CLIP-seq
MIRT1406115	hsa-miR-1301	CLIP-seq
MIRT1406116	hsa-miR-1305	CLIP-seq
MIRT1406117	hsa-miR-137	CLIP-seq
MIRT1406089	hsa-miR-148a	CLIP-seq
MIRT1406090	hsa-miR-148b	CLIP-seq
MIRT1406091	hsa-miR-152	CLIP-seq
MIRT1406118	hsa-miR-15a	CLIP-seq
MIRT1406119	hsa-miR-15b	CLIP-seq
MIRT1406120	hsa-miR-16	CLIP-seq
MIRT1406121	hsa-miR-190	CLIP-seq
MIRT1406122	hsa-miR-190b	CLIP-seq
MIRT1406123	hsa-miR-195	CLIP-seq
MIRT1406124	hsa-miR-200b	CLIP-seq
MIRT1406125	hsa-miR-200c	CLIP-seq
MIRT1406126	hsa-miR-203	CLIP-seq
MIRT1406127	hsa-miR-208a	CLIP-seq
MIRT1406128	hsa-miR-208b	CLIP-seq
MIRT1406129	hsa-miR-2113	CLIP-seq
MIRT1406130	hsa-miR-2276	CLIP-seq
MIRT1406131	hsa-miR-2277-3p	CLIP-seq
MIRT1406132	hsa-miR-23a	CLIP-seq
MIRT1406133	hsa-miR-23b	CLIP-seq
MIRT1406134	hsa-miR-23c	CLIP-seq
MIRT1406135	hsa-miR-25	CLIP-seq
MIRT1406136	hsa-miR-27a	CLIP-seq
MIRT1406137	hsa-miR-27b	CLIP-seq
MIRT1406138	hsa-miR-3065-5p	CLIP-seq
MIRT1406092	hsa-miR-3074-3p	CLIP-seq
MIRT1406139	hsa-miR-3119	CLIP-seq
MIRT1406140	hsa-miR-3138	CLIP-seq
MIRT1406093	hsa-miR-3175	CLIP-seq
MIRT1406141	hsa-miR-32	CLIP-seq
MIRT1406142	hsa-miR-3201	CLIP-seq
MIRT1406143	hsa-miR-338-5p	CLIP-seq
MIRT1406144	hsa-miR-34a	CLIP-seq
MIRT1406145	hsa-miR-34c-5p	CLIP-seq
MIRT1406146	hsa-miR-3606	CLIP-seq
MIRT1406147	hsa-miR-3611	CLIP-seq
MIRT1406148	hsa-miR-363	CLIP-seq
MIRT1406095	hsa-miR-365	CLIP-seq
MIRT1406149	hsa-miR-3658	CLIP-seq
MIRT1406150	hsa-miR-367	CLIP-seq
MIRT1406151	hsa-miR-3911	CLIP-seq
MIRT1406152	hsa-miR-421	CLIP-seq
MIRT1406153	hsa-miR-424	CLIP-seq
MIRT1406154	hsa-miR-425	CLIP-seq
MIRT1406155	hsa-miR-429	CLIP-seq
MIRT1406156	hsa-miR-4291	CLIP-seq
MIRT1406098	hsa-miR-4325	CLIP-seq
MIRT1406157	hsa-miR-4417	CLIP-seq
MIRT1406158	hsa-miR-4475	CLIP-seq
MIRT1406159	hsa-miR-4480	CLIP-seq
MIRT1406160	hsa-miR-4483	CLIP-seq
MIRT1406161	hsa-miR-449a	CLIP-seq
MIRT1406162	hsa-miR-449b	CLIP-seq
MIRT1406163	hsa-miR-452	CLIP-seq
MIRT1406164	hsa-miR-4670-3p	CLIP-seq
MIRT1406165	hsa-miR-4676-3p	CLIP-seq
MIRT1406103	hsa-miR-4699-5p	CLIP-seq
MIRT1406166	hsa-miR-4722-5p	CLIP-seq
MIRT1406104	hsa-miR-4723-5p	CLIP-seq
MIRT1406105	hsa-miR-4753-3p	CLIP-seq
MIRT1406167	hsa-miR-4760-3p	CLIP-seq
MIRT1406168	hsa-miR-4764-5p	CLIP-seq
MIRT1406169	hsa-miR-4768-3p	CLIP-seq
MIRT1406170	hsa-miR-4772-3p	CLIP-seq
MIRT1406171	hsa-miR-4791	CLIP-seq
MIRT1406172	hsa-miR-4800-5p	CLIP-seq
MIRT1406173	hsa-miR-497	CLIP-seq
MIRT1406174	hsa-miR-499-5p	CLIP-seq
MIRT1406175	hsa-miR-5047	CLIP-seq
MIRT1406176	hsa-miR-507	CLIP-seq
MIRT1406177	hsa-miR-513a-5p	CLIP-seq
MIRT1406178	hsa-miR-541	CLIP-seq
MIRT1406179	hsa-miR-545	CLIP-seq
MIRT1406180	hsa-miR-548m	CLIP-seq
MIRT1406181	hsa-miR-548p	CLIP-seq
MIRT1406182	hsa-miR-557	CLIP-seq
MIRT1406183	hsa-miR-595	CLIP-seq
MIRT1406107	hsa-miR-603	CLIP-seq
MIRT1406184	hsa-miR-654-5p	CLIP-seq
MIRT1406185	hsa-miR-758	CLIP-seq
MIRT1406186	hsa-miR-891b	CLIP-seq
MIRT1406187	hsa-miR-92a	CLIP-seq
MIRT1406188	hsa-miR-92b	CLIP-seq
MIRT1406189	hsa-miR-944	CLIP-seq
MIRT1406110	hsa-miR-1208	CLIP-seq
MIRT1406111	hsa-miR-127-5p	CLIP-seq
MIRT1406116	hsa-miR-1305	CLIP-seq
MIRT1406117	hsa-miR-137	CLIP-seq
MIRT1406089	hsa-miR-148a	CLIP-seq
MIRT1406090	hsa-miR-148b	CLIP-seq
MIRT1406091	hsa-miR-152	CLIP-seq
MIRT1406118	hsa-miR-15a	CLIP-seq
MIRT1406119	hsa-miR-15b	CLIP-seq
MIRT1406120	hsa-miR-16	CLIP-seq
MIRT1406121	hsa-miR-190	CLIP-seq
MIRT1406122	hsa-miR-190b	CLIP-seq
MIRT1406123	hsa-miR-195	CLIP-seq
MIRT1406124	hsa-miR-200b	CLIP-seq
MIRT1406125	hsa-miR-200c	CLIP-seq
MIRT1406129	hsa-miR-2113	CLIP-seq
MIRT1406131	hsa-miR-2277-3p	CLIP-seq
MIRT1406132	hsa-miR-23a	CLIP-seq
MIRT1406133	hsa-miR-23b	CLIP-seq
MIRT1406134	hsa-miR-23c	CLIP-seq
MIRT1406135	hsa-miR-25	CLIP-seq
MIRT1406136	hsa-miR-27a	CLIP-seq
MIRT1406137	hsa-miR-27b	CLIP-seq
MIRT2121750	hsa-miR-3064-3p	CLIP-seq
MIRT1406138	hsa-miR-3065-5p	CLIP-seq
MIRT1406092	hsa-miR-3074-3p	CLIP-seq
MIRT2121751	hsa-miR-3120-3p	CLIP-seq
MIRT2121752	hsa-miR-3123	CLIP-seq
MIRT2121753	hsa-miR-3163	CLIP-seq
MIRT2121754	hsa-miR-3177-5p	CLIP-seq
MIRT1406141	hsa-miR-32	CLIP-seq
MIRT1406142	hsa-miR-3201	CLIP-seq
MIRT1406147	hsa-miR-3611	CLIP-seq
MIRT1406148	hsa-miR-363	CLIP-seq
MIRT1406095	hsa-miR-365	CLIP-seq
MIRT1406150	hsa-miR-367	CLIP-seq
MIRT2121755	hsa-miR-3924	CLIP-seq
MIRT2121756	hsa-miR-3925-5p	CLIP-seq
MIRT2121757	hsa-miR-3942-5p	CLIP-seq
MIRT2121758	hsa-miR-3976	CLIP-seq
MIRT1406152	hsa-miR-421	CLIP-seq
MIRT1406153	hsa-miR-424	CLIP-seq
MIRT2121759	hsa-miR-4282	CLIP-seq
MIRT1406155	hsa-miR-429	CLIP-seq
MIRT1406156	hsa-miR-4291	CLIP-seq
MIRT1406098	hsa-miR-4325	CLIP-seq
MIRT1406159	hsa-miR-4480	CLIP-seq
MIRT1406163	hsa-miR-452	CLIP-seq
MIRT2121760	hsa-miR-4645-3p	CLIP-seq
MIRT1406165	hsa-miR-4676-3p	CLIP-seq
MIRT1406103	hsa-miR-4699-5p	CLIP-seq
MIRT2121761	hsa-miR-4703-5p	CLIP-seq
MIRT2121762	hsa-miR-4704-5p	CLIP-seq
MIRT2121763	hsa-miR-4722-3p	CLIP-seq
MIRT1406105	hsa-miR-4753-3p	CLIP-seq
MIRT1406167	hsa-miR-4760-3p	CLIP-seq
MIRT2121764	hsa-miR-4789-3p	CLIP-seq
MIRT2121765	hsa-miR-4789-5p	CLIP-seq
MIRT1406171	hsa-miR-4791	CLIP-seq
MIRT2121766	hsa-miR-4797-5p	CLIP-seq
MIRT1406173	hsa-miR-497	CLIP-seq
MIRT1406177	hsa-miR-513a-5p	CLIP-seq
MIRT1406179	hsa-miR-545	CLIP-seq
MIRT2121767	hsa-miR-548ac	CLIP-seq
MIRT2121768	hsa-miR-548ae	CLIP-seq
MIRT2121769	hsa-miR-548aj	CLIP-seq
MIRT2121770	hsa-miR-548am	CLIP-seq
MIRT2121771	hsa-miR-548d-3p	CLIP-seq
MIRT2121772	hsa-miR-548x	CLIP-seq
MIRT2121773	hsa-miR-548z	CLIP-seq
MIRT2121774	hsa-miR-600	CLIP-seq
MIRT2121775	hsa-miR-654-3p	CLIP-seq
MIRT1406185	hsa-miR-758	CLIP-seq
MIRT1406186	hsa-miR-891b	CLIP-seq
MIRT1406187	hsa-miR-92a	CLIP-seq
MIRT1406188	hsa-miR-92b	CLIP-seq
MIRT1406189	hsa-miR-944	CLIP-seq
MIRT1406108	hsa-miR-103a	CLIP-seq
MIRT1406109	hsa-miR-107	CLIP-seq
MIRT1406117	hsa-miR-137	CLIP-seq
MIRT1406089	hsa-miR-148a	CLIP-seq
MIRT1406090	hsa-miR-148b	CLIP-seq
MIRT1406091	hsa-miR-152	CLIP-seq
MIRT1406118	hsa-miR-15a	CLIP-seq
MIRT1406119	hsa-miR-15b	CLIP-seq
MIRT1406120	hsa-miR-16	CLIP-seq
MIRT1406123	hsa-miR-195	CLIP-seq
MIRT1406124	hsa-miR-200b	CLIP-seq
MIRT1406125	hsa-miR-200c	CLIP-seq
MIRT1406126	hsa-miR-203	CLIP-seq
MIRT1406127	hsa-miR-208a	CLIP-seq
MIRT1406128	hsa-miR-208b	CLIP-seq
MIRT1406131	hsa-miR-2277-3p	CLIP-seq
MIRT1406135	hsa-miR-25	CLIP-seq
MIRT1406092	hsa-miR-3074-3p	CLIP-seq
MIRT2343741	hsa-miR-3160-5p	CLIP-seq
MIRT2121754	hsa-miR-3177-5p	CLIP-seq
MIRT2343742	hsa-miR-3180-5p	CLIP-seq
MIRT1406141	hsa-miR-32	CLIP-seq
MIRT1406148	hsa-miR-363	CLIP-seq
MIRT1406095	hsa-miR-365	CLIP-seq
MIRT1406149	hsa-miR-3658	CLIP-seq
MIRT1406150	hsa-miR-367	CLIP-seq
MIRT2343743	hsa-miR-3929	CLIP-seq
MIRT1406153	hsa-miR-424	CLIP-seq
MIRT1406154	hsa-miR-425	CLIP-seq
MIRT1406155	hsa-miR-429	CLIP-seq
MIRT1406098	hsa-miR-4325	CLIP-seq
MIRT2343744	hsa-miR-4419b	CLIP-seq
MIRT2343745	hsa-miR-4446-5p	CLIP-seq
MIRT2343746	hsa-miR-4478	CLIP-seq
MIRT2343747	hsa-miR-448	CLIP-seq
MIRT2121760	hsa-miR-4645-3p	CLIP-seq
MIRT2343748	hsa-miR-4687-3p	CLIP-seq
MIRT1406105	hsa-miR-4753-3p	CLIP-seq
MIRT2343749	hsa-miR-4755-5p	CLIP-seq
MIRT2121764	hsa-miR-4789-3p	CLIP-seq
MIRT2121765	hsa-miR-4789-5p	CLIP-seq
MIRT1406173	hsa-miR-497	CLIP-seq
MIRT1406174	hsa-miR-499-5p	CLIP-seq
MIRT1406179	hsa-miR-545	CLIP-seq
MIRT2343750	hsa-miR-670	CLIP-seq
MIRT1406187	hsa-miR-92a	CLIP-seq
MIRT1406188	hsa-miR-92b	CLIP-seq
MIRT2395462	hsa-miR-466	CLIP-seq
MIRT1406110	hsa-miR-1208	CLIP-seq
MIRT1406163	hsa-miR-452	CLIP-seq
MIRT1406165	hsa-miR-4676-3p	CLIP-seq
MIRT2637395	hsa-miR-2053	CLIP-seq
MIRT2121751	hsa-miR-3120-3p	CLIP-seq
MIRT2637396	hsa-miR-4263	CLIP-seq
MIRT2637397	hsa-miR-4457	CLIP-seq
MIRT2637398	hsa-miR-4660	CLIP-seq
MIRT2343748	hsa-miR-4687-3p	CLIP-seq
MIRT2637399	hsa-miR-4762-5p	CLIP-seq
MIRT2637400	hsa-miR-513b	CLIP-seq
MIRT1406179	hsa-miR-545	CLIP-seq
MIRT2637401	hsa-miR-576-5p	CLIP-seq
MIRT2637402	hsa-miR-647	CLIP-seq
MIRT2637403	hsa-miR-885-3p	CLIP-seq
MIRT2637404	hsa-miR-888	CLIP-seq
MIRT2637405	hsa-miR-9	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IDA	18093523
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	TAS
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IDA	18093523
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IMP	18591654, 23804563, 27435091
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	ISS
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS
GO:0005515	Function	Protein binding	IPI	18539136, 35914814
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	ISS	9428629
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006836	Process	Neurotransmitter transport	ISS
GO:0006897	Process	Endocytosis	IEA
GO:0007612	Process	Learning	IMP	18591654
GO:0012506	Component	Vesicle membrane	ISS
GO:0016020	Component	Membrane	IBA
GO:0016082	Process	Synaptic vesicle priming	ISS
GO:0016191	Process	Synaptic vesicle uncoating	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0030117	Component	Membrane coat	ISS
GO:0030132	Component	Clathrin coat of coated pit	ISS	9428629
GO:0034595	Function	Phosphatidylinositol phosphate 5-phosphatase activity	ISS
GO:0034596	Function	Phosphatidylinositol phosphate 4-phosphatase activity	TAS
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0043195	Component	Terminal bouton	ISS
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0043812	Function	Phosphatidylinositol-4-phosphate phosphatase activity	IDA	18093523
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	TAS
GO:0046488	Process	Phosphatidylinositol metabolic process	ISS
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	18093523
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IMP	18591654
GO:0046856	Process	Phosphatidylinositol dephosphorylation	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048488	Process	Synaptic vesicle endocytosis	IBA
GO:0048488	Process	Synaptic vesicle endocytosis	IGI	18093523
GO:0048488	Process	Synaptic vesicle endocytosis	ISS
GO:0048489	Process	Synaptic vesicle transport	ISS
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	IBA
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	TAS
GO:0061024	Process	Membrane organization	TAS
GO:0097060	Component	Synaptic membrane	ISS	9428629
GO:0098793	Component	Presynapse	IBA
GO:0098793	Component	Presynapse	IDA	18093523
GO:1904980	Process	Positive regulation of endosome organization	IMP	22511594

MIM	HGNC	e!Ensembl
604297	11503	ENSG00000159082

O43426

Protein name

Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1)

Protein function

Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:23804563, PubMed:27435091). Has a role in clathrin-med

PDB

1W80 , 2DNR , 2VJ0 , 7A0V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02383	Syja_N	60 → 340	SacI homology domain	Family
PF03372	Exo_endo_phos	538 → 859	Endonuclease/Exonuclease/phosphatase family	Domain
PF08952	DUF1866	867 → 1009	Domain of unknown function (DUF1866)	Domain

Sequence

MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAY
GLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVR
KVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLL
RLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLD
DSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVN
LLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLD
YGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTR
FQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLL
LGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTW
NVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNI
VSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKT
GMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLF
SHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTF
APTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYT
WTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSI
KSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELL
NRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSA
EVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPS
AQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGARSPAPTRK
EFGGIGAPPSPGVARREMEAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPP
RAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRL
QEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPL
KIDPFEDLSFNLLAVSKAQLSVQTSPVPTPDPKRLIQLPSATQSNVLSSVSCMPTMPPIP
ARSQSQENMRSSPNPFITGLTRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISP
FPSLQPLGHNKSRASSSLDGFKDSFDLQGQSTLKISNPKGWVTFEEEEDFGVKGKSKSAC
SDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPPPPVPLLPPGTSPPVDPFTTL
ASKASPTLDFTER

Sequence length

1573

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of PIPs at the plasma membrane Synthesis of IP2, IP, and Ins in the cytosol Synthesis of IP3 and IP4 in the cytosol Clathrin-mediated endocytosis

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 1	Likely pathogenic; Pathogenic	rs1569075471	RCV000761360	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 53	Pathogenic; Likely pathogenic	rs747261340, rs2145756643, rs2146047336, rs1419316294, rs1227986180, rs1040540690, rs2146213143, rs1160469053, rs2145981153, rs2146213651, rs2145769010, rs2517541465, rs2040913777, rs2517530686, rs2516760115 View all (22 more)	RCV001390943 RCV001382931 RCV001389214 RCV001387875 RCV001381958 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Early-onset Parkinson disease 20	Pathogenic; Likely pathogenic	rs747261340, rs2145756643, rs2146047336, rs1419316294, rs1227986180, rs1040540690, rs2146213143, rs1160469053, rs2145981153, rs2146213651, rs2145769010, rs2517541465, rs2040913777, rs2517530686, rs2516760115 View all (22 more)	RCV001390943 RCV001382931 RCV001389214 RCV001387875 RCV001381958 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SYNJ1-related disorder	Pathogenic	rs398122403	RCV003398658	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Young-onset Parkinson disease	Pathogenic	rs398122403	RCV005625265	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL JUVENILE PARKINSONISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 20, EARLY-ONSET	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOUNG ONSET PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (95)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Akinesia	Akinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24186361, 24927707, 32493451, 33349335	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28051077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anarthria speech disorder	Anarthria Speech Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical juvenile parkinsonism	Parkinsonian disease	ORPHANET_DG	23804563, 23804577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical juvenile parkinsonism	Parkinsonian disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	BEFREE	31316342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11443522, 15261714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	11443522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	32493451, 36148638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	11443522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35508649, 39838718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	27435091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	24052255, 26372964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	39273702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36939875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	26725142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29179256, 34657631, 36148638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22511594, 24927707, 25302295, 29874583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	24927707, 33349335, 38095646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	36148638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27435091, 30187305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27435091, 33349335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36148638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53	Epileptic encephalopathy	CLINVAR_DG	25316601, 27435091		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53	Epileptic encephalopathy	UNIPROT_DG	27435091		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27435091		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	29874583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	27927754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	23804563, 30187305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30695232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30695232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24052255, 26149920, 26372964, 29874583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27435091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	29179256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28190456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	28190456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22511594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27435091, 29179256, 36939875, 37510225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26965686, 27435091, 29179256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	37510225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25302295, 26149920, 26725142, 27496670, 30509690, 31287913, 31751865		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	29179256, 29515184, 33349335, 36939875	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	27496670		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 20, EARLY-ONSET	Parkinson disease	GENOMICS_ENGLAND_DG	23804563, 23804577, 27435091, 27496670		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 20, EARLY-ONSET	Parkinson disease	CLINVAR_DG	23804563, 23804577, 25316601, 27435091, 27869329		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 20, EARLY-ONSET	Parkinson disease	UNIPROT_DG	23804563, 23804577, 27496670		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 20, EARLY-ONSET	Parkinson disease	BEFREE	24816432, 29515184, 31751865		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 20, EARLY-ONSET	Parkinson disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	23804563, 27435091, 29515184, 36148638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23804563, 23804577, 24816432, 26725142, 27435091, 29515184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	23804563, 39273702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	29515184	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonism, Juvenile	Parkinsonian disease	GENOMICS_ENGLAND_DG	23804563, 23804577, 27435091, 27496670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonism, Juvenile	Parkinsonian disease	BEFREE	24262182, 30187305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26725142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	21880993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	21880993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	20956521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	20956521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23804563, 27435091, 29179256, 39273702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	29179256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	25316601, 29179256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	26725142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	25302295, 29179256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young-onset Parkinson disease	Parkinson disease	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

SYNJ1 (synaptojanin 1)