TOMM40 (translocase of outer mitochondrial membrane 40)

Gene

• Entrez ID: 10452
• Gene name: Translocase of outer mitochondrial membrane 40
• Gene symbol: TOMM40
• Synonyms (NCBI Gene): C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitocho

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025243	hsa-miR-34a-5p	Proteomics	21566225
MIRT025243	hsa-miR-34a-5p	Proteomics	21566225
MIRT025243	hsa-miR-34a-5p	Proteomics	21566225
MIRT025243	hsa-miR-34a-5p	Proteomics	21566225
MIRT042816	hsa-miR-324-3p	CLASH	23622248
MIRT042204	hsa-miR-484	CLASH	23622248
MIRT040094	hsa-miR-615-3p	CLASH	23622248
MIRT640238	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT640237	hsa-miR-8073	HITS-CLIP	23824327
MIRT640236	hsa-miR-1306-3p	HITS-CLIP	23824327
MIRT640235	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT640234	hsa-miR-5695	HITS-CLIP	23824327
MIRT640233	hsa-miR-3176	HITS-CLIP	23824327
MIRT640232	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT640231	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT640230	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT640229	hsa-miR-6131	HITS-CLIP	23824327
MIRT640228	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT640227	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT640226	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT640225	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT640224	hsa-miR-548s	HITS-CLIP	23824327
MIRT640223	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT640222	hsa-miR-588	HITS-CLIP	23824327
MIRT640221	hsa-miR-4435	HITS-CLIP	23824327
MIRT640220	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT640219	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT640218	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT640217	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT568688	hsa-miR-4453	PAR-CLIP	20371350
MIRT568687	hsa-miR-4538	PAR-CLIP	20371350
MIRT568686	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT568685	hsa-miR-3136-3p	PAR-CLIP	20371350
MIRT568684	hsa-miR-7155-3p	PAR-CLIP	20371350
MIRT568683	hsa-miR-328-3p	PAR-CLIP	20371350
MIRT568688	hsa-miR-4453	PAR-CLIP	20371350
MIRT568687	hsa-miR-4538	PAR-CLIP	20371350
MIRT568686	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT568685	hsa-miR-3136-3p	PAR-CLIP	20371350
MIRT568684	hsa-miR-7155-3p	PAR-CLIP	20371350
MIRT568683	hsa-miR-328-3p	PAR-CLIP	20371350
MIRT640238	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT640237	hsa-miR-8073	HITS-CLIP	23824327
MIRT640236	hsa-miR-1306-3p	HITS-CLIP	23824327
MIRT640235	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT640234	hsa-miR-5695	HITS-CLIP	23824327
MIRT640233	hsa-miR-3176	HITS-CLIP	23824327
MIRT640232	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT640231	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT640230	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT640229	hsa-miR-6131	HITS-CLIP	23824327
MIRT640228	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT640227	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT640226	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT640225	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT640224	hsa-miR-548s	HITS-CLIP	23824327
MIRT640223	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT640222	hsa-miR-588	HITS-CLIP	23824327
MIRT640221	hsa-miR-4435	HITS-CLIP	23824327
MIRT640220	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT640219	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT640218	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT640217	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT568688	hsa-miR-4453	PAR-CLIP	20371350
MIRT568687	hsa-miR-4538	PAR-CLIP	20371350
MIRT568686	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT568685	hsa-miR-3136-3p	PAR-CLIP	20371350
MIRT568684	hsa-miR-7155-3p	PAR-CLIP	20371350
MIRT568683	hsa-miR-328-3p	PAR-CLIP	20371350
MIRT568688	hsa-miR-4453	PAR-CLIP	20371350
MIRT568687	hsa-miR-4538	PAR-CLIP	20371350
MIRT568686	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT568685	hsa-miR-3136-3p	PAR-CLIP	20371350
MIRT568684	hsa-miR-7155-3p	PAR-CLIP	20371350
MIRT568683	hsa-miR-328-3p	PAR-CLIP	20371350
MIRT1446688	hsa-miR-1207-5p	CLIP-seq
MIRT1446689	hsa-miR-1909	CLIP-seq
MIRT1446690	hsa-miR-3688-5p	CLIP-seq
MIRT1446691	hsa-miR-3689d	CLIP-seq
MIRT1446692	hsa-miR-4716-3p	CLIP-seq
MIRT1446693	hsa-miR-4723-5p	CLIP-seq
MIRT1446694	hsa-miR-4736	CLIP-seq
MIRT1446695	hsa-miR-4763-3p	CLIP-seq
MIRT1446688	hsa-miR-1207-5p	CLIP-seq
MIRT1446689	hsa-miR-1909	CLIP-seq
MIRT1446696	hsa-miR-24	CLIP-seq
MIRT1446690	hsa-miR-3688-5p	CLIP-seq
MIRT1446691	hsa-miR-3689d	CLIP-seq
MIRT1446697	hsa-miR-4283	CLIP-seq
MIRT1446692	hsa-miR-4716-3p	CLIP-seq
MIRT1446693	hsa-miR-4723-5p	CLIP-seq
MIRT1446694	hsa-miR-4736	CLIP-seq
MIRT1446695	hsa-miR-4763-3p	CLIP-seq
MIRT1555124	hsa-miR-4728-5p	CLIP-seq
MIRT2133582	hsa-miR-129-5p	CLIP-seq
MIRT2133583	hsa-miR-3662	CLIP-seq
MIRT2133582	hsa-miR-129-5p	CLIP-seq
MIRT2133584	hsa-miR-340	CLIP-seq
MIRT2133585	hsa-miR-3607-3p	CLIP-seq
MIRT2133583	hsa-miR-3662	CLIP-seq
MIRT2133586	hsa-miR-3686	CLIP-seq
MIRT1446691	hsa-miR-3689d	CLIP-seq
MIRT2133587	hsa-miR-4449	CLIP-seq
MIRT2133588	hsa-miR-4652-3p	CLIP-seq
MIRT2133589	hsa-miR-4783-3p	CLIP-seq
MIRT2133590	hsa-miR-587	CLIP-seq
MIRT2133591	hsa-miR-671-3p	CLIP-seq
MIRT2648547	hsa-miR-1913	CLIP-seq
MIRT2648548	hsa-miR-2110	CLIP-seq
MIRT2648549	hsa-miR-2392	CLIP-seq
MIRT2648550	hsa-miR-3144-5p	CLIP-seq
MIRT2648551	hsa-miR-3180	CLIP-seq
MIRT2648552	hsa-miR-3180-3p	CLIP-seq
MIRT2648553	hsa-miR-3183	CLIP-seq
MIRT2648554	hsa-miR-3191	CLIP-seq
MIRT2648555	hsa-miR-3196	CLIP-seq
MIRT2648556	hsa-miR-3605-5p	CLIP-seq
MIRT2648557	hsa-miR-4268	CLIP-seq
MIRT2648558	hsa-miR-4271	CLIP-seq
MIRT2648559	hsa-miR-4313	CLIP-seq
MIRT2648560	hsa-miR-4443	CLIP-seq
MIRT2648561	hsa-miR-4508	CLIP-seq
MIRT2648562	hsa-miR-4652-5p	CLIP-seq
MIRT2648563	hsa-miR-4655-5p	CLIP-seq
MIRT2648564	hsa-miR-4723-3p	CLIP-seq
MIRT2648565	hsa-miR-4725-3p	CLIP-seq
MIRT2648566	hsa-miR-542-5p	CLIP-seq
MIRT2648567	hsa-miR-639	CLIP-seq
MIRT2648568	hsa-miR-720	CLIP-seq
MIRT2648569	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27554484, 31206022, 31412244
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IMP	11745481
GO:0005741	Component	Mitochondrial outer membrane	ISS	10980201
GO:0005741	Component	Mitochondrial outer membrane	NAS	18331822
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005742	Component	Mitochondrial outer membrane translocase complex	IBA
GO:0005742	Component	Mitochondrial outer membrane translocase complex	IDA	12198123, 15644312
GO:0005743	Component	Mitochondrial inner membrane	IDA	24746669
GO:0005829	Component	Cytosol	IDA
GO:0006626	Process	Protein targeting to mitochondrion	IGI	31206022
GO:0006626	Process	Protein targeting to mitochondrion	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0008320	Function	Protein transmembrane transporter activity	IBA
GO:0008320	Function	Protein transmembrane transporter activity	IEA
GO:0008320	Function	Protein transmembrane transporter activity	ISS
GO:0008320	Function	Protein transmembrane transporter activity	TAS	15644312
GO:0015031	Process	Protein transport	IEA
GO:0015288	Function	Porin activity	IEA
GO:0016020	Component	Membrane	IDA	15644312
GO:0016020	Component	Membrane	IEA
GO:0030150	Process	Protein import into mitochondrial matrix	IBA
GO:0030150	Process	Protein import into mitochondrial matrix	IEA
GO:0030150	Process	Protein import into mitochondrial matrix	IMP	15644312
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	31206022
GO:0045040	Process	Protein insertion into mitochondrial outer membrane	NAS	18331822
GO:0046930	Component	Pore complex	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0140596	Component	TOM complex	NAS	18331822

Other IDs

• MIM: 608061
• HGNC: 18001
• e!Ensembl: ENSG00000130204

Protein

• UniProt ID: O96008
• Protein name: Mitochondrial import receptor subunit TOM40 homolog (Protein Haymaker) (Translocase of outer membrane 40 kDa subunit homolog) (p38.5)
• Protein function: Channel-forming protein essential for import of protein precursors into mitochondria (PubMed:15644312, PubMed:31206022). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by forming a com
• PDB: 7CK6, 7CP9, 7VBY, 7VC4, 7VD2, 7VDD, 8XVA, 9EIH, 9EII, 9EIJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01459	Porin_3	79 → 355	Eukaryotic porin	Family

• Sequence:

  MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGA
  ATASASGAAEDGACGCLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVA
  LSTIGESNYHFGVTYVGTKQLSPTEAFPVLVGDMDNSGSLNAQVIHQLGPGLRSKMAIQT
  QQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILVAHYLQSITPCLALGGELVYHRR
  PGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASDQLQVGVEFEASTRMQDTSVS
  FGYQLDLPKANLLFKGSVDSNWIVGATLEKKLPPLPLTLALGAFLNHRKNKFQCGFGLTI
  G

• Sequence length: 361

Pathways

KEGG:

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

Reactome:

Pink/Parkin Mediated Mitophagy

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR CORTICAL ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	27023435, 29107063, 30319691, 30320580		★☆☆☆☆ Found in Text Mining only
Acute transient psychotic disorder	Transient Psychotic Disorder	GWASCAT_DG	22005930		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	22694956, 23326517		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	22694956, 23326517		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	24146538, 25304313		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16943564, 17434289, 19442637, 19554612, 19734902, 20029386, 20298972, 20885792, 21123754, 21379329, 21455713, 21459483, 21784354, 21803501, 21820212, 21825236, 21983493, 22209813, 22359560, 22596268, 22863908, 22869155, 22911757, 22982105, 23102119, 23183136, 23573206, 24146538, 24260406, 24439168, 24508314, 24549102, 24564704, 25044051, 25247594, 25670335, 26421299, 26543236, 26677855, 26680604, 26742953, 26756745, 26873889, 27189021, 28183529, 28549947, 28624335, 28641921, 28650998, 28672022, 28768149, 29107063, 29371683, 29739406, 29777097, 30517207, 31318836, 31322569, 31755389, 31760383, 32072450, 32160291, 32472747, 32555747, 32651314, 32694537, 33090224, 33372590, 33522999, 33798195, 34310032, 34625307, 34681041, 34740077, 34978147, 35461270, 36399096, 36750708, 36835494, 37253165, 37718796, 37804609, 37874111, 38044212, 38563508, 39177846, 39201500, 39210471	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	19668339, 34204109	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	30462377	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	27023435, 29107063, 30319691, 30320580		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	17434289, 19442637, 19554612, 20029386, 20298972, 21784354, 21820212, 21825236, 22008263, 22596268, 23288655, 23546992, 24439168, 25500937, 25862420, 26680604, 27023435, 27039903, 28242298, 28768149, 29524426		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	27023435, 29107063, 30319691, 30320580		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	19125160, 19136949, 19734902, 19734903, 20061627, 20460622, 20885792, 21098978, 21379329, 21460841, 21627779, 22005930, 22005931, 22832961, 23565137, 24755620, 24770881		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	19125160, 19734902, 19734903, 20061627, 20460622, 20885792, 21123754, 21627779, 22005930, 23419831, 24755620, 24770881, 26339675, 26993346, 29107063, 29777097, 30617256, 30636644, 30805717		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	27023435, 29107063, 30319691, 30320580		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	27023435, 29107063, 30319691, 30320580		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36524113	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	24439168	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	26993346, 31760383	Associate	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	23457231		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21891868		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	22710912		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	30431067		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33303703	Inhibit	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	BEFREE	19951432		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	19951432	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	24786335, 25703783	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	25596901, 25703783		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	25311932		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23102119, 25703783, 26742953, 26873889, 28108637, 28624335, 31201950, 31760383, 33580752, 35499926, 37718796	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	22911757, 23102119, 26444770, 28549947	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	28686695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	28686695, 39201500	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1	Coronary artery disease	GWASDB_DG	23202125		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	27707806	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282, 21966275		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	36450556	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	26756745, 29739406, 30706571		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	26756745, 29739406, 30706571, 33300824, 37718796	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	22863908, 24549102	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	24549102		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	24549102	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25044051		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25044051		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25044051	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25044051, 26252223, 27189021	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25044051, 25503385, 27189021, 28870582		★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29670124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	CTD_human_DG	29670124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	Pubtator	29670124	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset autosomal dominant Alzheimer disease	Alzheimer disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	24786335, 25703783		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24786335, 25703783	Associate	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	24146538		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	ORPHANET_DG	23234877		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	23792692		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	27023435, 29107063, 30319691, 30320580		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	26993346		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	23546992, 28387812		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	23546992		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24549102	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21257639, 27913212		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	21257639	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	32727492	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24176626, 24468470, 25862420, 28624335, 28984592		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	24103330, 25670332, 26335925		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	26756745, 31788537		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	26756745	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	33856023	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36524113	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	24549102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	24549102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory disorders	Pubtator	26873889	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	24549102		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	38201907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	22399527		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	22399527		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	21752496, 24838536, 25862420, 26444770, 30503753		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28183529, 30517207, 34204109, 36835494, 37895139	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32727492	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	25670332	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26677855		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35951602	Inhibit	★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	21820212		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24788522		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	21459773		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	38285218	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23522842, 23626796, 26756745, 30597143, 31788537		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24149440, 26756745	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35951602	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	26756745	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	23626796, 30706571		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	26756745		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	23546992, 28387812		★☆☆☆☆ Found in Text Mining only
Posterior cortical atrophy syndrome	Posterior cortical atrophy	GWASCAT_DG	26993346		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26756745, 29739406, 30706571		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	27023435, 29107063, 30319691, 30320580		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	22710912		★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	BEFREE	28387812		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	21820212		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	21820212	Associate	★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASDB_DG	23103227		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	25703783	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	24549102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	24549102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	24508314	Associate	★☆☆☆☆ Found in Text Mining only