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	203228
Gene name	C9orf72-SMCR8 complex subunit
Gene symbol	C9orf72
Synonyms (NCBI Gene)	ALSFTDDENND9DENNL72FTDALSFTDALS1
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

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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

204

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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

Show/Hide all (79)

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

MIM	HGNC	e!Ensembl
614260	28337	ENSG00000147894

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

Interactions

View interactions

	KEGG
	Autophagy - animal Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple 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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Pathogenic	rs143561967	RCV000192065	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

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.
AMYOTROPHIC LATERAL SCLEROSIS	—	ClinVar, Disgenet, GWAS catalog ClinVar, Disgenet, GWAS catalog ClinVar, Disgenet, GWAS catalog ClinVar, Disgenet, GWAS catalog ClinVar, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C9orf72-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF EYE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE-LIKE SYNDROME DUE TO CHROMOSOME 9 OPEN READING FRAME 72 EXPANSIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE MYOCLONUS EPILEPSY	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOAFFECTIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (268)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abulia	Abulia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	31310593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alexia	Alexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22459598, 22875087, 23053135, 23107433, 23413259, 23588422, 23922030, 24252571, 25207541, 29476165, 30550541, 31810826, 33131137, 34293287, 35661131, 36379394, 37107688 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	22766732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	23588422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	Pubtator	23695224, 24531155, 24819148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	19734901, 20801717, 20801718, 22959728, 24931836, 27455348, 29566793		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASDB_DG	19734901, 20801717, 20801718, 22959728, 23587638		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21944778, 22083254, 22105541, 22154785, 22181065, 22228244, 22300876, 22305801, 22343411, 22344582, 22366792, 22366795, 22406228, 22410647, 22418734 View all (497 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	21944778, 22083254, 22305801, 22343411, 22366792, 22366793, 22366794, 22366795, 22406228, 22418734, 22426854, 22445326, 22459598, 22509407, 22637471 View all (338 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG	23597494, 25326098		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24085347		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	24530272	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	27713094		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29196813, 33253636, 35525134	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	22343411, 22366794, 22418734, 24139042, 24445987, 25098532, 25207541, 25308964, 25618255, 25681989, 26253741, 26348842, 26463209, 27995069, 28005462 View all (11 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	22499346, 25384182, 26176978, 29131108, 29792928		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	24256812, 28931804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	31579943, 36747013	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	24256812, 28931804		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	24256812, 28931804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	BEFREE	23771489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	BEFREE	23421625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	27713094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	22366794, 22418734, 22673113, 22727276, 22878164, 23273600, 23381195, 23415570, 23463871, 24355526, 24378086, 24445987, 24493408, 24549040, 25207541 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	BEFREE	23588498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	27713094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	22366792, 22564974, 22708871, 23053136, 23088937, 23597494, 24139042, 24387985, 24529757, 25261695, 25308964, 25384182, 26142124, 26401819, 26725464 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	24256812, 28931804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anomia	Anomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	26547294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anosmia	Anosmia	Pubtator	24531155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	22366791, 30010122, 36308529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30010122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30010122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	30550541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	30550541, 37348248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia, Progressive	Aphasia	BEFREE	23435409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	25285776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	35921104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30938419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	29316893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	25467142, 26810537, 28442996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	22366795, 22637471, 22702520, 24531155, 25273996, 25342578, 25683866, 27995069, 28116236, 29197216, 30010122, 31696638, 33112398, 35348856, 36446586 View all (5 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29866399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29866399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	36538154	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28737506, 29950492, 30859373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	23116878, 23987827, 33398403, 35746899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	22483864, 22571983, 22766732, 22964910, 23338682, 23695224, 24510641, 25363208, 26338813, 26862832, 27327087, 28453474, 30349864, 30704514, 31066065, 31205123 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	ORPHANET_DG	23392204, 23597030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	23551834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	23551834, 37839080, 40064379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	22366795, 22964910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28337409, 35921104, 36223668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Broca Aphasia	Broca Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopneumonia	Bronchopneumonia	Pubtator	25185840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	26999347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	25158292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	30320585		★★★★★ ★☆☆☆☆ Found in Text Mining only
C9 Deficiency	C9 deficiency	Pubtator	29196813, 29610297, 30981631, 31066065, 33362237, 35697676, 37887320, 38621131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	32330447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21944779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37043475	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Late Onset	Cerebellar Ataxia	BEFREE	25467142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	26977398, 30010122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	25683866, 26977398, 30010122, 35869263, 36379394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	26810719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	36895129	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	22366795, 22964910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis Neuronal 6	Neuronal ceroid lipofuscinosis	Pubtator	32848248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	24363131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22366794, 23117491, 30550541, 32180125, 33709219, 36309735, 36812822, 36977552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30550541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	36538154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	37348248	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Compulsive hoarding	Compulsive Hoarding	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	26108573, 31177556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy and perceptive deafness	Corneal dystrophy	Pubtator	37648532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	22300873, 23413259, 23987827, 26275564, 31327044, 34823271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corticobasal degeneration	Corticobasal Degeneration	BEFREE	31327044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	24493408, 25342578, 30010122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	22228244, 22366792, 22399793, 22875086, 23084342, 23413259, 23463871, 23588498, 23922030, 23998997, 24445903, 24819148, 25326098, 25467142, 25617006 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	22366792, 22550220, 22875086, 23084342, 23329412, 23597494, 24756204, 26275564, 27488601, 29191947, 29316893, 29476165, 30530974, 30550541, 31836585 View all (7 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35752680	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	24756204, 35921104, 36308529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatopathia pigmentosa reticularis	Dermatopathia Pigmentosa Reticularis	BEFREE	24096617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	25308964, 31327044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32855285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	29172163, 31177556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	23329412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	25034271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	24363131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	22964910, 27488601, 40063407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	26547294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27652840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	32180125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	23084342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	23084342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrapyramidal dyskinesia	Extrapyramidal dyskinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Extravasation of Diagnostic and Therapeutic Materials	Extravasation of diagnostic and therapeutic materials	Pubtator	25319030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	24650794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	BEFREE	23927914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	25979174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	21944778, 22101323, 22105541, 22228244, 22300873, 22300876, 22344582, 22355793, 22366791, 22366792, 22366794, 22366795, 22399793, 22406228, 22418734 View all (359 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	21944778, 22083254, 22300873, 22366791, 22366792, 22366793, 22366794, 22366795, 22406228, 22418734, 22445326, 22459598, 22483864, 22487746, 22637471 View all (317 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Frontotemporal dementia	GENOMICS_ENGLAND_DG	23597494, 25326098		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	24928930, 30739198, 31701893, 34664612	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	BEFREE	22300873, 22344582, 22366793, 22650353, 22964910, 24080172, 25248608, 25284081, 27797809, 28192553, 30252044, 31530427		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	ORPHANET_DG	23597030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia with motor neuron disease	Frontotemporal Dementia With Motor Neuron Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	GENOMICS_ENGLAND_DG	23597494, 25326098		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	CTD_human_DG	26769963		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	22154785, 22181065, 22300873, 22355793, 22366791, 22410647, 22420316, 22426854, 22444279, 22459598, 22477152, 22502998, 22532172, 22571983, 22702520 View all (109 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	CTD_human_DG	27713094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	24080172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Grammar-specific speech disorder	Grammar-specific speech disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	22964910, 24077574, 24493408, 25285776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	37648532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35235759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure Diastolic	Heart failure	Pubtator	25363208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	24126854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas Familial	Hepatic adenoma	Pubtator	21944779, 38613988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	22702520, 32180125, 35836354, 40063407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	24363131, 28887402, 35661131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25034271, 25248608, 27060770, 28442996, 29441485, 30336474		★★★★★ ★☆☆☆☆ Found in Text Mining only
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	31721251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease-Like Syndrome	Huntington Disease-Like	BEFREE	24363131, 25034271, 25248608, 29441485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington disease-like syndrome due to C9ORF72 expansions	Huntington Disease-Like	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune System Diseases	BEFREE	29957385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37083530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23117491, 24269022, 26350237, 26839080, 26903389, 27652840, 30550541, 30733331, 31133784, 31582231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24445903, 25979174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35921104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	32943482, 37348248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	36538154	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lateral Sclerosis	Lateral Sclerosis	BEFREE	24493408, 27476503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	26275564, 28003435, 29889265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	27241037, 27666590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	38613988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	22459598, 22487746, 22550220, 22875087, 23818065, 24139028, 24806409, 25404306, 26584779, 26769963, 26916632, 27288208, 27720481, 27773700, 28009271 View all (38 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	40252388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	26799151, 28877758, 37068310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	34544819	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29480183, 29550431		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30447080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	22366791, 23473366, 23922030, 24531155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24445580, 24756204, 30010122, 31119452, 31773397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	23352322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25207541, 36121477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	25433797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	25433797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	22366792, 25384182, 26044557, 28606110, 30323119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	22300873, 22366791, 22366792, 22399793, 22571983, 22739338, 22843265, 23746459, 23922030, 24011653, 24096617, 24126854, 24252525, 24378086, 24385136 View all (25 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	22300873, 22366791, 22366792, 22487746, 23473366, 23922030, 24252525, 24521566, 24928930, 24950788, 25185840, 25308964, 25326098, 26146826, 26303227 View all (12 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	24363131, 26810719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	24363131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23085936, 24355526, 26233805, 29055436, 30099204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	24733620, 35746899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	36309735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	25185840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	26785370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	23423380, 24371143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	25005000		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27139021, 27856299, 28585384, 28689190, 29326544, 30382371, 30430876, 30767689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31658762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	28365006, 30553531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23107433, 23329412, 23551834, 24139028, 24442578, 24598541, 25081482, 25175602, 25207541, 25281017, 26348842, 26538301, 27097283, 28827593, 29282338 View all (27 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	22420316, 22426854, 23107433, 23160421, 23434116, 23551834, 23720273, 23746459, 23845100, 23934648, 24027057, 24090760, 24170096, 24439166, 24442578 View all (39 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	BEFREE	28566149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	38431841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	33663561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	22300873, 23036583, 23473366, 24077574, 24411481, 24493408, 24898651, 26275564, 26723138, 26862832, 28320191, 28482638		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	23036583, 23473366, 24077574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	28320191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	31079065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	31530427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillon-Lefevre Disease	Papillon-Lefevre Disease	BEFREE	22843265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoid Disorders	Paranoia	Pubtator	22300873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parietal Foramina	Parietal foramina	Pubtator	22366791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22721568, 22985429, 23084342, 23116878, 23273600, 23413259, 23845100, 23884045, 24573903, 25326098, 26275564, 27473499, 28069311, 28365006, 30099204, 30777654 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23084342, 23413259, 23845100, 23884045, 23987827, 24573903, 26275564, 30788857, 31327044, 34382491, 34440384, 35289213, 35661131, 35948443, 40141040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	22637471, 22964910, 23084342, 23413259, 23884045, 23987827, 24573903, 24756204, 25308964, 25342578, 26275564, 28268100, 30550541, 30788857, 32151952, 34382491 View all (1 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28365006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	22985429, 23063644, 23254636, 23413259, 23588498, 23884045, 24011980, 24493408, 24573903, 25342578, 25467142, 26275564, 26373655, 26575405, 26810719 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	35746899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	22300873, 22300876, 22344582, 22366791, 22366792, 22366794, 22366795, 22399793, 22406228, 22502998, 22637429, 22673113, 22721568, 22727276, 22742426 View all (160 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	BEFREE	24612676		★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	BEFREE	24612676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	22228244, 22366792, 22399793, 22875086, 23084342, 23413259, 23463871, 23588498, 23922030, 23998997, 24445903, 24819148, 25326098, 25467142, 25617006 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	22300876, 22727276, 24898647, 25765123, 26549049, 28562080, 30599136, 31696638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	ORPHANET_DG	23597030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	BEFREE	26463677, 28100023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive Muscular Atrophy	Progressive Muscular Atrophy	BEFREE	22843265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive non-fluent aphasia	Progressive Non-Fluent Aphasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	25098532, 25308964, 26549049, 26810719, 29630712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Agitation	Psychiatric disorders	Pubtator	24819148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	33857770, 35921104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	22300873, 23036583, 23473366, 24077574, 24411481, 24493408, 24898651, 26275564, 26723138, 26862832, 28320191, 28482638		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	22300873, 23036583, 23473366, 23548882, 24531155, 25342578, 26275564, 26723138, 28116236, 28320191, 35921104, 37839080	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	23036583, 23473366, 24077574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	26303227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	23084342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	23084342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30859373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	24387986, 26723138		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizoaffective Disorder	Schizoaffective Disorder	PSYGENET_DG	24387986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	23036583, 24387986, 25115936, 25433797, 26723138, 26862832, 28238272, 28320191, 31119452, 31205123		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23036583, 24387986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	25433797, 26723138, 28320191, 34217252	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia Spectrum and Other Psychotic Disorders	Schizophrenia	Pubtator	22875086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	ORPHANET_DG	23597030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Semantic dementia	Semantic Dementia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	BEFREE	28100023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	25637145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	25284081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	24126854, 24378086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	24998634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 36	Spinocerebellar Ataxia	BEFREE	29281254		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 8	Spinocerebellar Ataxia	BEFREE	24852074, 25005000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	29281254, 29316893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	23413259, 23987827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	24861427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporal cortical atrophy	Temporal cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de pointes	Pubtator	25756586, 30909235, 40063407, 40478310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	24363131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23987827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

C9orf72 (C9orf72-SMCR8 complex subunit)