C9orf72 (C9orf72-SMCR8 complex subunit)

Gene

• Entrez ID: 203228
• Gene name: C9orf72-SMCR8 complex subunit
• Gene symbol: C9orf72
• Synonyms (NCBI Gene): ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1
• Chromosome: 9
• Chromosome location: 9p21.2
• Summary: The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143561967	GGCCCCGGCCCC>-,GGCCCC,GGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCC	Pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021644	hsa-miR-142-3p	Microarray	17612493
MIRT441028	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT021644	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT441028	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT021644	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT855680	hsa-miR-101	CLIP-seq
MIRT855681	hsa-miR-1183	CLIP-seq
MIRT855682	hsa-miR-144	CLIP-seq
MIRT855683	hsa-miR-146a	CLIP-seq
MIRT855684	hsa-miR-146b-5p	CLIP-seq
MIRT855685	hsa-miR-329	CLIP-seq
MIRT855686	hsa-miR-3607-3p	CLIP-seq
MIRT855687	hsa-miR-362-3p	CLIP-seq
MIRT855688	hsa-miR-3686	CLIP-seq
MIRT855689	hsa-miR-3920	CLIP-seq
MIRT855690	hsa-miR-3941	CLIP-seq
MIRT855691	hsa-miR-4280	CLIP-seq
MIRT855692	hsa-miR-4762-3p	CLIP-seq
MIRT855693	hsa-miR-582-5p	CLIP-seq
MIRT855694	hsa-miR-589	CLIP-seq
MIRT855695	hsa-miR-603	CLIP-seq
MIRT855696	hsa-miR-106a	CLIP-seq
MIRT855697	hsa-miR-106b	CLIP-seq
MIRT855698	hsa-miR-1208	CLIP-seq
MIRT855699	hsa-miR-17	CLIP-seq
MIRT855700	hsa-miR-20a	CLIP-seq
MIRT855701	hsa-miR-20b	CLIP-seq
MIRT855702	hsa-miR-302a	CLIP-seq
MIRT855703	hsa-miR-302b	CLIP-seq
MIRT855704	hsa-miR-302c	CLIP-seq
MIRT855705	hsa-miR-302d	CLIP-seq
MIRT855706	hsa-miR-302e	CLIP-seq
MIRT855707	hsa-miR-3609	CLIP-seq
MIRT855708	hsa-miR-372	CLIP-seq
MIRT855709	hsa-miR-373	CLIP-seq
MIRT855689	hsa-miR-3920	CLIP-seq
MIRT855710	hsa-miR-4263	CLIP-seq
MIRT855692	hsa-miR-4762-3p	CLIP-seq
MIRT855711	hsa-miR-4796-3p	CLIP-seq
MIRT855712	hsa-miR-498	CLIP-seq
MIRT855713	hsa-miR-519a	CLIP-seq
MIRT855714	hsa-miR-519b-3p	CLIP-seq
MIRT855715	hsa-miR-519c-3p	CLIP-seq
MIRT855716	hsa-miR-519d	CLIP-seq
MIRT855717	hsa-miR-520a-3p	CLIP-seq
MIRT855718	hsa-miR-520b	CLIP-seq
MIRT855719	hsa-miR-520c-3p	CLIP-seq
MIRT855720	hsa-miR-520d-3p	CLIP-seq
MIRT855721	hsa-miR-520e	CLIP-seq
MIRT855722	hsa-miR-520f	CLIP-seq
MIRT855723	hsa-miR-548ah	CLIP-seq
MIRT855724	hsa-miR-656	CLIP-seq
MIRT855725	hsa-miR-93	CLIP-seq
MIRT1954236	hsa-miR-3065-5p	CLIP-seq
MIRT1954237	hsa-miR-3163	CLIP-seq
MIRT855710	hsa-miR-4263	CLIP-seq
MIRT1954238	hsa-miR-451b	CLIP-seq
MIRT1954239	hsa-miR-4643	CLIP-seq
MIRT1954240	hsa-miR-548an	CLIP-seq
MIRT1954241	hsa-miR-576-5p	CLIP-seq
MIRT855702	hsa-miR-302a	CLIP-seq
MIRT855703	hsa-miR-302b	CLIP-seq
MIRT855704	hsa-miR-302c	CLIP-seq
MIRT855705	hsa-miR-302d	CLIP-seq
MIRT855706	hsa-miR-302e	CLIP-seq
MIRT855708	hsa-miR-372	CLIP-seq
MIRT855709	hsa-miR-373	CLIP-seq
MIRT855717	hsa-miR-520a-3p	CLIP-seq
MIRT855718	hsa-miR-520b	CLIP-seq
MIRT855719	hsa-miR-520c-3p	CLIP-seq
MIRT855720	hsa-miR-520d-3p	CLIP-seq
MIRT855721	hsa-miR-520e	CLIP-seq
MIRT2191697	hsa-miR-1244	CLIP-seq
MIRT2191698	hsa-miR-199a-3p	CLIP-seq
MIRT2191699	hsa-miR-199b-3p	CLIP-seq
MIRT1954236	hsa-miR-3065-5p	CLIP-seq
MIRT2191700	hsa-miR-3129-5p	CLIP-seq
MIRT2191701	hsa-miR-3613-3p	CLIP-seq
MIRT1954238	hsa-miR-451b	CLIP-seq
MIRT2191702	hsa-miR-4703-3p	CLIP-seq
MIRT2495293	hsa-miR-124	CLIP-seq
MIRT2191697	hsa-miR-1244	CLIP-seq
MIRT2495294	hsa-miR-1273e	CLIP-seq
MIRT2495295	hsa-miR-1915	CLIP-seq
MIRT2191698	hsa-miR-199a-3p	CLIP-seq
MIRT2191699	hsa-miR-199b-3p	CLIP-seq
MIRT2495296	hsa-miR-24	CLIP-seq
MIRT2495297	hsa-miR-30a	CLIP-seq
MIRT2495298	hsa-miR-30b	CLIP-seq
MIRT2495299	hsa-miR-30c	CLIP-seq
MIRT2495300	hsa-miR-30d	CLIP-seq
MIRT2495301	hsa-miR-30e	CLIP-seq
MIRT2191700	hsa-miR-3129-5p	CLIP-seq
MIRT2495302	hsa-miR-3173-3p	CLIP-seq
MIRT2495303	hsa-miR-320a	CLIP-seq
MIRT2495304	hsa-miR-320b	CLIP-seq
MIRT2495305	hsa-miR-320c	CLIP-seq
MIRT2495306	hsa-miR-320d	CLIP-seq
MIRT2191701	hsa-miR-3613-3p	CLIP-seq
MIRT2495307	hsa-miR-3647-3p	CLIP-seq
MIRT2495308	hsa-miR-3689d	CLIP-seq
MIRT2495309	hsa-miR-3691-3p	CLIP-seq
MIRT2495310	hsa-miR-371b-5p	CLIP-seq
MIRT2495311	hsa-miR-3908	CLIP-seq
MIRT2495312	hsa-miR-3942-5p	CLIP-seq
MIRT2495313	hsa-miR-3973	CLIP-seq
MIRT855710	hsa-miR-4263	CLIP-seq
MIRT2495314	hsa-miR-4284	CLIP-seq
MIRT2495315	hsa-miR-4428	CLIP-seq
MIRT2495316	hsa-miR-4429	CLIP-seq
MIRT2495317	hsa-miR-4459	CLIP-seq
MIRT2495318	hsa-miR-4495	CLIP-seq
MIRT2495319	hsa-miR-4509	CLIP-seq
MIRT2495320	hsa-miR-4521	CLIP-seq
MIRT2495321	hsa-miR-4539	CLIP-seq
MIRT1954239	hsa-miR-4643	CLIP-seq
MIRT2495322	hsa-miR-4661-3p	CLIP-seq
MIRT2495323	hsa-miR-4662a-3p	CLIP-seq
MIRT2495324	hsa-miR-4686	CLIP-seq
MIRT2191702	hsa-miR-4703-3p	CLIP-seq
MIRT2495325	hsa-miR-4703-5p	CLIP-seq
MIRT2495326	hsa-miR-4726-3p	CLIP-seq
MIRT2495327	hsa-miR-4744	CLIP-seq
MIRT2495328	hsa-miR-4760-5p	CLIP-seq
MIRT2495329	hsa-miR-4766-3p	CLIP-seq
MIRT2495330	hsa-miR-4775	CLIP-seq
MIRT2495331	hsa-miR-4793-5p	CLIP-seq
MIRT2495332	hsa-miR-4795-3p	CLIP-seq
MIRT2495333	hsa-miR-4799-5p	CLIP-seq
MIRT855712	hsa-miR-498	CLIP-seq
MIRT2495334	hsa-miR-506	CLIP-seq
MIRT1954240	hsa-miR-548an	CLIP-seq
MIRT1954241	hsa-miR-576-5p	CLIP-seq
MIRT2495335	hsa-miR-605	CLIP-seq
MIRT2495336	hsa-miR-607	CLIP-seq
MIRT2495337	hsa-miR-642b	CLIP-seq
MIRT855681	hsa-miR-1183	CLIP-seq
MIRT2495293	hsa-miR-124	CLIP-seq
MIRT2191697	hsa-miR-1244	CLIP-seq
MIRT2495294	hsa-miR-1273e	CLIP-seq
MIRT855683	hsa-miR-146a	CLIP-seq
MIRT855684	hsa-miR-146b-5p	CLIP-seq
MIRT2495295	hsa-miR-1915	CLIP-seq
MIRT2191698	hsa-miR-199a-3p	CLIP-seq
MIRT2191699	hsa-miR-199b-3p	CLIP-seq
MIRT2495296	hsa-miR-24	CLIP-seq
MIRT2495297	hsa-miR-30a	CLIP-seq
MIRT2495298	hsa-miR-30b	CLIP-seq
MIRT2495299	hsa-miR-30c	CLIP-seq
MIRT2495300	hsa-miR-30d	CLIP-seq
MIRT2495301	hsa-miR-30e	CLIP-seq
MIRT2191700	hsa-miR-3129-5p	CLIP-seq
MIRT2677167	hsa-miR-3155	CLIP-seq
MIRT2677168	hsa-miR-3155b	CLIP-seq
MIRT2495302	hsa-miR-3173-3p	CLIP-seq
MIRT2495303	hsa-miR-320a	CLIP-seq
MIRT2495304	hsa-miR-320b	CLIP-seq
MIRT2495305	hsa-miR-320c	CLIP-seq
MIRT2495306	hsa-miR-320d	CLIP-seq
MIRT2191701	hsa-miR-3613-3p	CLIP-seq
MIRT2495307	hsa-miR-3647-3p	CLIP-seq
MIRT2495308	hsa-miR-3689d	CLIP-seq
MIRT2495309	hsa-miR-3691-3p	CLIP-seq
MIRT2495310	hsa-miR-371b-5p	CLIP-seq
MIRT2495311	hsa-miR-3908	CLIP-seq
MIRT2677169	hsa-miR-3913-3p	CLIP-seq
MIRT2495312	hsa-miR-3942-5p	CLIP-seq
MIRT2495313	hsa-miR-3973	CLIP-seq
MIRT855710	hsa-miR-4263	CLIP-seq
MIRT2495314	hsa-miR-4284	CLIP-seq
MIRT2495315	hsa-miR-4428	CLIP-seq
MIRT2495316	hsa-miR-4429	CLIP-seq
MIRT2677170	hsa-miR-4438	CLIP-seq
MIRT2495317	hsa-miR-4459	CLIP-seq
MIRT2495318	hsa-miR-4495	CLIP-seq
MIRT2495319	hsa-miR-4509	CLIP-seq
MIRT2495320	hsa-miR-4521	CLIP-seq
MIRT2495321	hsa-miR-4539	CLIP-seq
MIRT1954239	hsa-miR-4643	CLIP-seq
MIRT2495322	hsa-miR-4661-3p	CLIP-seq
MIRT2495323	hsa-miR-4662a-3p	CLIP-seq
MIRT2495324	hsa-miR-4686	CLIP-seq
MIRT2191702	hsa-miR-4703-3p	CLIP-seq
MIRT2495325	hsa-miR-4703-5p	CLIP-seq
MIRT2495326	hsa-miR-4726-3p	CLIP-seq
MIRT2495327	hsa-miR-4744	CLIP-seq
MIRT2495328	hsa-miR-4760-5p	CLIP-seq
MIRT2495329	hsa-miR-4766-3p	CLIP-seq
MIRT2495330	hsa-miR-4775	CLIP-seq
MIRT2495331	hsa-miR-4793-5p	CLIP-seq
MIRT2495332	hsa-miR-4795-3p	CLIP-seq
MIRT2495333	hsa-miR-4799-5p	CLIP-seq
MIRT2677171	hsa-miR-484	CLIP-seq
MIRT2677172	hsa-miR-489	CLIP-seq
MIRT855712	hsa-miR-498	CLIP-seq
MIRT2495334	hsa-miR-506	CLIP-seq
MIRT2677173	hsa-miR-513a-5p	CLIP-seq
MIRT1954240	hsa-miR-548an	CLIP-seq
MIRT1954241	hsa-miR-576-5p	CLIP-seq
MIRT2677174	hsa-miR-581	CLIP-seq
MIRT855694	hsa-miR-589	CLIP-seq
MIRT2495335	hsa-miR-605	CLIP-seq
MIRT2495336	hsa-miR-607	CLIP-seq
MIRT2495337	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000932	Component	P-body	IDA	27037575
GO:0000932	Component	P-body	IEA
GO:0001933	Process	Negative regulation of protein phosphorylation	IMP	27723745
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	27103069, 27617292
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	37821429
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005096	Function	GTPase activator activity	IMP	32303654
GO:0005515	Function	Protein binding	IPI	21516116, 24549040, 25416956, 27103069, 27107012, 27334615, 27559131, 28195531, 29950492, 32296183, 32303654, 33961781, 37821429
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	24549040
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IDA	24549040, 26174152, 27037575
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	27037575, 27193190
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	27617292
GO:0005764	Component	Lysosome	IDA	24549040, 27559131
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IDA	24549040
GO:0005768	Component	Endosome	IEA
GO:0005776	Component	Autophagosome	IBA
GO:0005776	Component	Autophagosome	IDA	24549040
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	IDA	37821429
GO:0006897	Process	Endocytosis	IBA
GO:0006897	Process	Endocytosis	IMP	24549040
GO:0006914	Process	Autophagy	IBA
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IMP	24549040
GO:0010494	Component	Cytoplasmic stress granule	IDA	27037575
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010506	Process	Regulation of autophagy	IEA
GO:0010506	Process	Regulation of autophagy	IMP	27103069
GO:0010506	Process	Regulation of autophagy	NAS	27617292
GO:0016020	Component	Membrane	IEA
GO:0016239	Process	Positive regulation of macroautophagy	IGI	27103069
GO:0016239	Process	Positive regulation of macroautophagy	IMP	27103069, 27334615
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IDA	26174152
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IEA
GO:0031267	Function	Small GTPase binding	IDA	24549040
GO:0031267	Function	Small GTPase binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031965	Component	Nuclear membrane	IDA	26174152
GO:0031965	Component	Nuclear membrane	IEA
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IDA	27103069
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IPI	29950492
GO:0032880	Process	Regulation of protein localization	IEA
GO:0034063	Process	Stress granule assembly	IMP	27037575
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043204	Component	Perikaryon	IDA	26174152
GO:0043204	Component	Perikaryon	IEA
GO:0044295	Component	Axonal growth cone	IDA	27723745
GO:0044304	Component	Main axon	IDA	27723745
GO:0044754	Component	Autolysosome	IEA
GO:0045202	Component	Synapse	IEA
GO:0045920	Process	Negative regulation of exocytosis	NAS	29950492
GO:0048675	Process	Axon extension	IEA
GO:0048675	Process	Axon extension	IMP	27723745
GO:0050777	Process	Negative regulation of immune response	NAS	29950492
GO:0061909	Process	Autophagosome-lysosome fusion	IMP	37821429
GO:0090543	Component	Flemming body	IDA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098693	Process	Regulation of synaptic vesicle cycle	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099523	Component	Presynaptic cytosol	IDA	30075745
GO:0110053	Process	Regulation of actin filament organization	IEA
GO:0110053	Process	Regulation of actin filament organization	IMP	27723745
GO:1902774	Process	Late endosome to lysosome transport	IEA
GO:1902774	Process	Late endosome to lysosome transport	ISS
GO:1903432	Process	Regulation of TORC1 signaling	IEA
GO:1903432	Process	Regulation of TORC1 signaling	IMP	27559131
GO:1990316	Component	Atg1/ULK1 kinase complex	IDA	27193190
GO:2000785	Process	Regulation of autophagosome assembly	IMP	27334615

Other IDs

• MIM: 614260
• HGNC: 28337
• e!Ensembl: ENSG00000147894

Protein

• UniProt ID: Q96LT7
• Protein name: Guanine nucleotide exchange factor C9orf72
• Protein function: Acts as a guanine-nucleotide releasing factor (GEF) for Rab GTPases by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMed:28195531, PubMed:37821429). Acts as a GEF f
• PDB: 6LT0, 6V4U, 7MGE, 7O2W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15019	C9orf72-like	61 → 324	C9orf72-like protein family	Family

• Tissue specificity: TISSUE SPECIFICITY: Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level). {ECO:0000269|PubMed:21944778,
• Sequence:

  MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEIT
  FLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTE
  LSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEV
  IPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSS
  AEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMY
  APYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESF
  TPDLNIFQDVLHRDTLVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDT
  QKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMT
  F

• Sequence length: 481

Pathways

KEGG:

Autophagy - animal
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Pathogenic	rs143561967	RCV000192065

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	Uncertain significance; Likely benign; Benign	rs886063833, rs749166700, rs886063842, rs886063843, rs11292923, rs886063834, rs886063845, rs200583482, rs1554659312, rs772249544, rs1554659316, rs886063847	RCV000278103 RCV000287950 RCV000357628 RCV000402520 RCV000356694 RCV000369951 RCV000309486 RCV000289596 RCV000359265 RCV000408017 RCV000344797 RCV000408020 RCV000305143 RCV000317598 RCV000314466 RCV000277728 RCV000259527 RCV000299564
Autism spectrum disorder	Uncertain significance	rs2814707	RCV003314487
C9orf72-related disorder	Likely benign	rs201135029, rs145418675, rs770077991	RCV003901557 RCV003942139 RCV003969668

Associations from Text Mining
Disease Name	Relationship Type	References
Agnosia	Associate	26463677
Agraphia	Associate	30550541
Agraphia	Stimulate	36538154
Alcohol Amnestic Disorder	Associate	23922030
Alexia Pure	Associate	37648532
Alzheimer Disease	Associate	22459598, 22875087, 23053135, 23107433, 23413259, 23588422, 23922030, 24252571, 25207541, 29476165, 30550541, 31810826, 33131137, 34293287, 35661131, 36379394, 37107688
Amnesia	Associate	23695224, 24531155, 24819148
Amnesia Anterograde	Associate	23199140
Amyotrophic Lateral Sclerosis	Associate	21944778, 22083254, 22305801, 22343411, 22366792, 22366793, 22366794, 22366795, 22406228, 22418734, 22426854, 22445326, 22459598, 22509407, 22637471, 22692064, 22702520, 22720079, 22721568, 22739338, 22840558, 22875086, 22875087, 22964910, 23036583, 23053135, 23084342, 23100398, 23107433, 23116878, 23117491, 23199140, 23228179, 23264878, 23329412, 23338750, 23413259, 23415312, 23423380, 23434116, 23439112, 23473366, 23551834, 23566336, 23587638, 23588422, 23588498, 23597494, 23731538, 23771489, 23818065, 23845100, 23881933, 23884045, 23894576, 23987827, 24107864, 24129584, 24139042, 24154603, 24166615, 24170096, 24248382, 24269018, 24363131, 24371143, 24379375, 24439481, 24442578, 24445987, 24496499, 24559645, 24598541, 24703839, 24704492, 24706941, 24733620, 24756204, 24769471, 24806409, 24819148, 24861139, 24866055, 24908669, 25111021, 25123918, 25147206, 25179228, 25207541, 25319030, 25326098, 25382069, 25415378, 25580746, 25637145, 25681989, 25716178, 25756586, 25943887, 26004200, 26016851, 26099177, 26108573, 26192745, 26253741, 26275564, 26303227, 26348842, 26432832, 26481318, 26564809, 26584779, 26632347, 26691640, 26723138, 26733254, 26746986, 26769963, 26799151, 26915990, 26916632, 26999347, 27097283, 27103069, 27151080, 27241037, 27334615, 27488601, 27559131, 27623008, 27666590, 27756805, 27768897, 27797809, 27814735, 27838743, 27933757, 27982083, 27995069, 28132891, 28222900, 28320191, 28337409, 28408402, 28413711, 28430856, 28439722, 28508101, 28522837, 28539470, 28614712, 28615433, 28637276, 28639078, 28766957, 28827593, 28887402, 29049464, 29054917, 29191947, 29197216, 29281254, 29282338, 29302060, 29323119, 29367641, 29402965, 29610297, 29628143, 29630712, 29889265, 29929116, 29995611, 30003873, 30014505, 30045958, 30126445, 30138726, 30150298, 30252044, 30277522, 30337192, 30430876, 30503283, 30550541, 30605685, 30617154, 30643298, 30705258, 30767689, 30979436, 30981631, 31009932, 31048495, 31107959, 31148094, 31164693, 31177556, 31188823, 31327044, 31439573, 31530427, 31578300, 31579943, 31642962, 31673013, 31791419, 31805259, 31841614, 31843624, 31925813, 31930538, 31932031, 31991801, 32000838, 32084385, 32093728, 32125773, 32151952, 32223927, 32303654, 32312103, 32330447, 32365404, 32421156, 32504093, 32505118, 32515902, 32521185, 32666680, 32673563, 32730793, 32827688, 32830871, 32845284, 32848248, 32855285, 32917270, 33055097, 33058338, 33131137, 33168078, 33168090, 33196168, 33362237, 33398403, 33414559, 33421737, 33495278, 33541344, 33619157, 33663561, 33709219, 33741069, 33770234, 33780440, 33855846, 33871026, 33892821, 34048588, 34051439, 34099711, 34145292, 34152475, 34161229, 34209673, 34293287, 34303705, 34318620, 34349004, 34389711, 34450161, 34475377, 34499080, 34534264, 34544842, 34677935, 34764380, 34767750, 34779076, 34848561, 35164882, 35314728, 35361972, 35379698, 35383205, 35513421, 35568435, 35576218, 35576897, 35589706, 35589711, 35661131, 35746899, 35869263, 36070099, 36103513, 36121477, 36264717, 36308529, 36309735, 36345033, 36446586, 36481270, 36511680, 36522764, 36528014, 36549973, 36694130, 36747013, 36821445, 36823368, 36917918, 36963214, 36980274, 37068310, 37083530, 37107688, 37133535, 37184603, 37216594, 37365312, 37375224, 37379724, 37438085, 37466726, 37608584, 37648532, 37675986, 37686239, 37691292, 37696852, 37714849, 37717009, 37722062, 37723585, 37736756, 37839080, 37887320, 38019311, 38092738, 38123999, 38129650, 38431841, 38615685, 38621131, 39191178, 39289761, 39316038, 39662462, 40333935, 40349639, 40629595
Amyotrophic Lateral Sclerosis	Inhibit	24530272
Amyotrophic Lateral Sclerosis	Stimulate	29196813, 33253636, 35525134
Amyotrophic lateral sclerosis 1	Associate	22343411, 22366794, 22418734, 24139042, 24445987, 25098532, 25207541, 25308964, 25618255, 25681989, 26253741, 26348842, 26463209, 27995069, 28005462, 28642336, 28808785, 29367641, 31177556, 31925813, 32504093, 32521185, 33741069, 37461319, 37686239, 37887320
Amyotrophic lateral sclerosis 1	Stimulate	31579943, 36747013
Anosmia	Associate	24531155
Anxiety	Associate	22366791, 30010122, 36308529
Aphasia	Associate	30550541, 37348248
Aphasia Broca	Associate	35661131
Aphasia Conduction	Associate	33239440
Aphasia Primary Progressive	Associate	25765123, 30599136, 32943482, 36799407
Apraxias	Associate	35921104
Articulation Disorders	Stimulate	36538154
Articulation Disorders	Associate	37348248
Ataxia	Associate	29316893
Atrophy	Associate	22366795, 22637471, 22702520, 24531155, 25273996, 25342578, 25683866, 27995069, 28116236, 29197216, 30010122, 31696638, 33112398, 35348856, 36446586, 36538154, 36895129, 37068310, 37648532, 40063407
Auditory Perceptual Disorders	Stimulate	36538154
Basal Ganglia Diseases	Associate	23116878, 23987827, 33398403, 35746899
Bipolar Disorder	Associate	23551834, 37839080, 40064379
Brain Diseases	Associate	28337409, 35921104, 36223668
Bronchopneumonia	Associate	25185840
Bulbo Spinal Atrophy X Linked	Associate	35661131
C9 Deficiency	Associate	29196813, 29610297, 30981631, 31066065, 33362237, 35697676, 37887320, 38621131
Calcium Metabolism Disorders	Associate	32330447
Carcinoma Hepatocellular	Associate	21944779
Carcinoma Hepatocellular	Stimulate	37043475
Cataract Congenital with Mental Impairment and Dentate Gyrus Atrophy	Associate	29197216
Cerebellar Diseases	Associate	25683866, 26977398, 30010122, 35869263, 36379394
Cerebellar Diseases	Stimulate	36895129
Ceroid Lipofuscinosis Neuronal 6	Associate	32848248
Chorea	Associate	24363131
Clinical Deterioration	Associate	36446586
Cognition Disorders	Associate	22366794, 23117491, 30550541, 32180125, 33709219, 36309735, 36812822, 36977552
Cognitive Dysfunction	Associate	36538154
Cognitive Dysfunction	Stimulate	37348248
Compulsive Personality Disorder	Associate	33404617
Corneal dystrophy and perceptive deafness	Associate	37648532
Corticobasal Degeneration	Associate	22300873, 23413259, 23987827, 26275564, 31327044, 34823271
COVID 19	Associate	34209673
Creutzfeldt Jakob Disease Sporadic	Associate	33131137
Creutzfeldt Jakob Syndrome	Associate	33131137
Deafness Autosomal Dominant 43	Associate	32330447
Death	Associate	22426854, 25388784, 31810826
Delusional Parasitosis	Associate	22300873, 23548882, 25342578, 28116236, 30010122
Dementia	Associate	22366792, 22550220, 22875086, 23084342, 23329412, 23597494, 24756204, 26275564, 27488601, 29191947, 29316893, 29476165, 30530974, 30550541, 31836585, 32521185, 32855285, 33112398, 36308529, 36379394, 36538154, 37068310
Dementia	Stimulate	35752680
Depressive Disorder	Associate	24756204, 35921104, 36308529
Developmental Disabilities	Associate	32855285
Diffuse Cerebral Sclerosis of Schilder	Associate	29172163, 31177556
Disease	Associate	27995069, 31594549, 33889947
Disorders of Sex Development	Associate	23329412
Dissociative Disorders	Associate	24819148
Drug Related Side Effects and Adverse Reactions	Associate	24129584, 24139042, 27103069, 29196813, 31188823, 31586943, 31930538, 34161229, 34303705, 34499080
Dysgeusia	Associate	29197216
Dystonia	Associate	24363131
Dystonic Disorders	Associate	22964910, 27488601, 40063407
Epilepsy Reflex	Associate	30550541
Epilepsy Temporal Lobe	Associate	32180125
Epileptic Syndromes	Associate	25273996
Essential Tremor	Associate	23084342
Extravasation of Diagnostic and Therapeutic Materials	Associate	25319030
Factitious Disorders	Associate	24756204
Fasciculation	Associate	35790423
Fragile X Syndrome	Associate	28887402
Frontotemporal Dementia	Associate	21944778, 22083254, 22300873, 22366791, 22366792, 22366793, 22366794, 22366795, 22406228, 22418734, 22445326, 22459598, 22483864, 22487746, 22637471, 22692064, 22702520, 22721568, 22840558, 22875086, 22875087, 22892647, 22964910, 23036583, 23063644, 23084342, 23100398, 23107433, 23116878, 23264878, 23338750, 23415312, 23423380, 23437264, 23439112, 23473366, 23548882, 23551834, 23588422, 23695224, 23771489, 23818065, 23845100, 23884045, 23962693, 24107864, 24129584, 24139028, 24139042, 24166615, 24248382, 24286341, 24371143, 24510641, 24521566, 24530272, 24598541, 24706941, 24709683, 24733620, 24756204, 24806409, 24819148, 24943344, 24950788, 25098532, 25147206, 25179228, 25207541, 25273996, 25308964, 25342578, 25363208, 25388784, 25433797, 25580532, 25662776, 25683866, 25756587, 25765123, 25943887, 26016851, 26108573, 26146826, 26253741, 26275564, 26338813, 26432832, 26463209, 26538301, 26564809, 26584779, 26682693, 26691640, 26723138, 26769963, 26799151, 26916632, 26977398, 27097283, 27103069, 27151080, 27241037, 27334615, 27488601, 27559131, 27581216, 27623008, 27632209, 27666590, 27720481, 27797809, 27933757, 27995069, 28005462, 28009271, 28116236, 28132891, 28268100, 28320191, 28337409, 28408402, 28439722, 28460069, 28508101, 28522837, 28529873, 28533210, 28614712, 28615433, 28749476, 28766957, 28827593, 29020091, 29054917, 29172163, 29175945, 29191947, 29281254, 29302060, 29323119, 29402965, 29440230, 29476165, 29610297, 29628143, 29630712, 29704893, 29845007, 29889066, 29995611, 30003873, 30010122, 30094168, 30111356, 30126445, 30150298, 30252044, 30277522, 30292090, 30337192, 30430876, 30503283, 30511086, 30528349, 30550541, 30617154, 30704514, 30711674, 30767689, 30847466, 30979436, 31048495, 31066065, 31148094, 31177556, 31530427, 31673013, 31680172, 31696638, 31805259, 31810826, 31914226, 31930538, 31937580, 31991801, 32000838, 32035967, 32093728, 32180125, 32223927, 32303654, 32330447, 32344399, 32421156, 32504093, 32673563, 32730793, 32769115, 32843152, 32848248, 32865835, 32943482, 33055097, 33055142, 33112398, 33122395, 33131137, 33168078, 33168090, 33196168, 33221702, 33239440, 33253636, 33362237, 33404617, 33421737, 33495278, 33663561, 33709219, 33741069, 33780440, 33855846, 33857770, 33892814, 33895632, 33896652, 33983551, 34048588, 34049163, 34099711, 34133849, 34161229, 34174288, 34209673, 34253227, 34293287, 34303705, 34349004, 34353857, 34382491, 34389711, 34440384, 34475377, 34544819, 34561610, 34633446, 34677935, 34743360, 34768862, 34838088, 34848561, 34853325, 35045872, 35152451, 35164882, 35188955, 35224690, 35314728, 35325762, 35348856, 35379698, 35383205, 35483895, 35568435, 35589706, 35589711, 35661131, 35752680, 35921104, 35948443, 35950369, 35964197, 36045450, 36103513, 36121477, 36138153, 36217158, 36245297, 36264717, 36288997, 36308529, 36345033, 36379394, 36385202, 36443488, 36446586, 36499048, 36513817, 36799407, 36812822, 36821445, 36895129, 36898614, 36963214, 37003407, 37083530, 37107688, 37216594, 37348248, 37365312, 37375224, 37379724, 37438085, 37461319, 37466726, 37491327, 37511014, 37548032, 37648532, 37675986, 37696852, 37714849, 37717009, 37839080, 37861203, 37979250, 38019311, 38040703, 38092738, 38110419, 38123999, 38129650, 38253362, 38320749, 38431841, 38615685, 38621131, 39289761, 40064379, 40252388, 40349639
Frontotemporal Dementia	Stimulate	24928930, 30739198, 31701893, 34664612
Frontotemporal Lobar Degeneration	Associate	22300873, 22366791, 22426854, 22459598, 22512241, 22702520, 22892647, 23036583, 23053135, 23117491, 23199140, 23413259, 23434116, 23437264, 23473366, 23731538, 23922030, 23987827, 24081456, 24154603, 24170096, 24252525, 24286341, 24363131, 24442578, 24531155, 24559645, 24806409, 24866055, 24908669, 24950788, 25185840, 25326098, 25342578, 25549971, 25595499, 25716178, 25756586, 26004200, 26022924, 26437865, 26463677, 26481318, 26538301, 26632347, 26691640, 27435172, 27798094, 28306503, 28431575, 28637276, 28766957, 28877758, 29197216, 29282338, 29480183, 29559004, 29889265, 30029693, 30138726, 30382371, 30705258, 30909235, 31327044, 31448566, 31537715, 31559531, 31561355, 31594549, 31642962, 31791419, 32151952, 32441885, 32769115, 32830871, 32848248, 32943482, 33112398, 33131137, 33889947, 33904372, 34328616, 34353857, 34450161, 34534264, 34544819, 34823271, 35045872, 35159297, 35483895, 35697676, 35746899, 35790423, 35836354, 36142612, 36361641, 36374516, 36812822, 36974379, 36977552, 37508584, 37686239, 37839080, 40380000, 40478310, 40618089, 40619440, 40629595
Genetic Diseases Inborn	Associate	22702520, 30831384, 31048495, 33770234
Glucose Intolerance	Associate	32421156
Hallucinations	Associate	22964910, 28116236
Hearing Loss	Associate	37648532
Heart Failure	Associate	35235759
Heart Failure Diastolic	Associate	25363208
Hepatic Adenomas Familial	Associate	21944779, 38613988
Hepatitis B	Associate	22702520, 32180125, 35836354, 40063407
Heredodegenerative Disorders Nervous System	Associate	23434116, 24154603, 28522837, 29402965
Hippocampal Sclerosis	Associate	23922030, 24819148
Huntington Disease	Associate	24363131, 28887402, 35661131
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	25319030
Immune System Diseases	Associate	37083530
Inflammation	Associate	29191947, 30292090, 31559531, 31843624, 37736756
Inflammation	Stimulate	31107959
Intellectual Disability	Associate	35921104
Language Disorders	Associate	32943482, 37348248
Language Disorders	Stimulate	36538154
Leukoencephalopathies	Associate	29197216, 36443488
Lewy Body Disease	Associate	26275564, 28003435, 29889265
Liver Diseases	Associate	38613988
Liver Neoplasms	Associate	22459598, 22487746, 22550220, 22875087, 23818065, 24139028, 24806409, 25404306, 26584779, 26769963, 26916632, 27288208, 27720481, 27773700, 28009271, 28408402, 28533210, 28808785, 29128563, 29175945, 29323119, 32035967, 32515902, 32554322, 32673563, 32713609, 32848248, 33058338, 33830997, 33892814, 34174288, 34321318, 34382491, 34440384, 34450161, 34853325, 35038056, 35224690, 35697676, 36223668, 36481270, 37080165, 37202167, 37379724, 37461319, 37717009, 37861203, 37887320, 38009843, 38019311, 38320749, 38613988, 39191178
Lown Ganong Levine Syndrome	Associate	31148094
Lymphoproliferative Disorders	Associate	40252388
Machado Joseph Disease	Associate	26083476
Malformations of Cortical Development	Associate	26799151, 28877758, 37068310
Malformations of Cortical Development	Stimulate	34544819
Memory Disorders	Associate	22366791, 23473366, 23922030, 24531155
Mental Disorders	Associate	24521566, 24756204, 25273996, 25433797, 26146826, 30010122, 30979436, 34349004, 36627201, 37839080, 40252388
Microphthalmia Syndromic 10	Associate	22366795, 22964910, 25683866, 33112398
Microsatellite Instability	Associate	24248382
Mitochondrial Diseases	Associate	25207541, 36121477
Mood Disorders	Associate	25433797
Motor Neuron Disease	Associate	22300873, 22366791, 22366792, 22487746, 23473366, 23922030, 24252525, 24521566, 24928930, 24950788, 25185840, 25308964, 25326098, 26146826, 26303227, 26538301, 27103069, 28089114, 28431575, 30029693, 30511086, 31594549, 32306171, 33889947, 36443488, 37133535, 40424855
Movement Disorders	Associate	24363131
Multiple System Atrophy	Associate	24733620, 35746899
Muscle Rigidity	Associate	24363131
Muscle Weakness	Associate	35790423
Muscular Atrophy	Associate	35790423
Muscular Disorders Atrophic	Associate	37068310
Muscular dystrophy congenital with central nervous system involvement	Associate	24445987
Myasthenic Syndromes Congenital	Associate	36309735
Myocardial Infarction	Associate	25185840
Myoclonus	Associate	24363131
Myopathy Granulovacuolar Lobular with Electrical Myotonia	Associate	32865835
Myopathy with Giant Abnormal Mitochondria	Associate	27151080
Myositis Inclusion Body	Associate	26785370
Myotonic Dystrophy	Associate	23423380, 24371143
Neoplasms	Associate	23329412
Nerve Degeneration	Associate	22366792, 23358603, 25273996, 25795648, 27103069, 28337409, 31930538, 32414878, 34145292
Neurocognitive Disorders	Associate	23922030
Neurodegenerative Diseases	Associate	23107433, 23329412, 23551834, 24139028, 24442578, 24598541, 25081482, 25175602, 25207541, 25281017, 26348842, 26538301, 27097283, 28827593, 29282338, 29889265, 29912891, 29929116, 30528841, 30550541, 30979436, 31327044, 31680172, 32000838, 32093728, 32151952, 32855285, 33495278, 33741069, 34099711, 34489423, 34534264, 35164882, 35289213, 35353274, 36379394, 37083530, 37178170, 37365312, 37648532, 38110419, 39339364
Neurologic Manifestations	Associate	28337409, 30767689
Neurologic Manifestations	Stimulate	35325762
Neuromuscular Diseases	Associate	38431841
Neurotoxicity Syndromes	Associate	24129584, 25388784, 31148094, 32093728, 32521185, 35361972
Night blindness congenital stationary	Associate	33663561
Ocular Motility Disorders	Associate	33709219
Oculocerebrorenal Syndrome	Associate	31079065
Oculomotor Nerve Diseases	Associate	33709219
Osteitis Deformans	Associate	31530427
Pain	Associate	26463677
Paranoid Disorders	Associate	22300873
Parietal Foramina	Associate	22366791
Parkinson Disease	Associate	23084342, 23413259, 23845100, 23884045, 23987827, 24573903, 26275564, 30788857, 31327044, 34382491, 34440384, 35289213, 35661131, 35948443, 40141040
Parkinson Disease Familial Type 1	Associate	26275564
Parkinson Disease Secondary	Associate	22637471, 22964910, 23084342, 23413259, 23884045, 23987827, 24573903, 24756204, 25308964, 25342578, 26275564, 28268100, 30550541, 30788857, 32151952, 34382491
Parkinsonian Disorders	Associate	35746899
Plaque Amyloid	Associate	22426854, 22459598
postintensive care syndrome	Associate	24819148
Pregnancy in Diabetics	Associate	23548882
Primary Progressive Nonfluent Aphasia	Associate	32441885, 32943482, 36799407
Psychomotor Agitation	Associate	24819148
Psychomotor Disorders	Associate	33857770, 35921104
Psychotic Disorders	Associate	22300873, 23036583, 23473366, 23548882, 24531155, 25342578, 26275564, 26723138, 28116236, 28320191, 35921104, 37839080
Respiratory Tract Diseases	Associate	26303227
Restless Legs Syndrome	Associate	23084342
Retrograde Degeneration	Associate	22720079, 34133849
Schizophrenia	Associate	25433797, 26723138, 28320191, 34217252
Schizophrenia Spectrum and Other Psychotic Disorders	Associate	22875086
Sensation Disorders	Associate	36379394
Skin Abnormalities	Associate	25637145
Speech Disorders	Associate	32855285, 37348248
Spinal Cord Diseases	Associate	31177556
Spinal Diseases	Associate	22445326
Spinal Neoplasms	Associate	22550220
Spinocerebellar Ataxias	Associate	29281254, 29316893
Supranuclear Palsy Progressive	Associate	23413259, 23987827
Syndrome	Associate	23199140
Synucleinopathies	Associate	23884045
Tauopathies	Associate	30790403
TDP 43 Proteinopathies	Associate	22702520, 23437264, 25943887, 37839080, 38621131
Thalamic Diseases	Associate	26463677, 29876259, 31696638, 36446586, 36895129, 37178170
Thinness	Associate	37648532
Tooth Loss	Associate	37348248
Torsades de Pointes	Associate	25756586, 30909235, 40063407, 40478310
Tremor	Associate	24363131
Vision Disorders	Associate	23987827