TREM2 (triggering receptor expressed on myeloid cells 2)

Gene

• Entrez ID: 54209
• Gene name: Triggering receptor expressed on myeloid cells 2
• Gene symbol: TREM2
• Synonyms (NCBI Gene): AD17, PLOSL2, TREM-2, Trem2a, Trem2b, Trem2c
• Chromosome: 6
• Chromosome location: 6p21.1
• Summary: This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1452413	hsa-miR-1290	CLIP-seq
MIRT1452414	hsa-miR-3167	CLIP-seq
MIRT1452415	hsa-miR-595	CLIP-seq
MIRT1452416	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001530	Function	Lipopolysaccharide binding	IEA
GO:0001540	Function	Amyloid-beta binding	IPI	29518356
GO:0001774	Process	Microglial cell activation	IEA
GO:0001774	Process	Microglial cell activation	ISS	29518356
GO:0001786	Function	Phosphatidylserine binding	IDA	31101881, 31902528
GO:0002116	Component	Semaphorin receptor complex	ISS
GO:0002282	Process	Microglial cell activation involved in immune response	IEA
GO:0002282	Process	Microglial cell activation involved in immune response	ISS
GO:0002291	Process	T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	IEA
GO:0002588	Process	Positive regulation of antigen processing and presentation of peptide antigen via MHC class II	IDA	11602640
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	IEA
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	ISS
GO:0002931	Process	Response to ischemia	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IBA
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	29518356, 30333625
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	11602640, 28490631, 29611543, 30341064
GO:0005543	Function	Phospholipid binding	IDA	27995897
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24078628, 27477018
GO:0005886	Component	Plasma membrane	IDA	27995897
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	24990881, 27589997, 28855300, 28855301
GO:0005886	Component	Plasma membrane	TAS
GO:0006909	Process	Phagocytosis	IEA
GO:0006910	Process	Phagocytosis, recognition	IMP	32514138
GO:0006911	Process	Phagocytosis, engulfment	IEA
GO:0006955	Process	Immune response	IEA
GO:0006959	Process	Humoral immune response	TAS
GO:0007165	Process	Signal transduction	IBA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007613	Process	Memory	IDA	31462511
GO:0007613	Process	Memory	IMP	29518357
GO:0008013	Function	Beta-catenin binding	IPI	30683932
GO:0008035	Function	High-density lipoprotein particle binding	IDA	27477018
GO:0008289	Function	Lipid binding	IEA
GO:0008289	Function	Lipid binding	TAS	29518356
GO:0008429	Function	Phosphatidylethanolamine binding	IDA	31101881
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	ISS	29518356
GO:0010507	Process	Negative regulation of autophagy	IEA
GO:0010507	Process	Negative regulation of autophagy	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	32514138
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010875	Process	Positive regulation of cholesterol efflux	IEA
GO:0010875	Process	Positive regulation of cholesterol efflux	ISS
GO:0010887	Process	Negative regulation of cholesterol storage	IEA
GO:0010887	Process	Negative regulation of cholesterol storage	ISS
GO:0010891	Process	Negative regulation of triglyceride storage	IEA
GO:0010891	Process	Negative regulation of triglyceride storage	ISS
GO:0010983	Process	Positive regulation of high-density lipoprotein particle clearance	IEA
GO:0010983	Process	Positive regulation of high-density lipoprotein particle clearance	ISS
GO:0016020	Component	Membrane	IDA	11602640
GO:0016020	Component	Membrane	IEA
GO:0017154	Function	Semaphorin receptor activity	IEA
GO:0019209	Function	Kinase activator activity	IMP	31902528
GO:0019216	Process	Regulation of lipid metabolic process	IMP	32514138
GO:0030169	Function	Low-density lipoprotein particle binding	IDA	27477018
GO:0030215	Function	Semaphorin receptor binding	IEA
GO:0030316	Process	Osteoclast differentiation	IMP	21841309
GO:0030316	Process	Osteoclast differentiation	IMP	12925681
GO:0032006	Process	Regulation of TOR signaling	IEA
GO:0032006	Process	Regulation of TOR signaling	ISS
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032008	Process	Positive regulation of TOR signaling	ISS
GO:0032497	Process	Detection of lipopolysaccharide	IEA
GO:0032499	Process	Detection of peptidoglycan	IEA
GO:0032675	Process	Regulation of interleukin-6 production	IEA
GO:0032675	Process	Regulation of interleukin-6 production	ISS	29518356
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032733	Process	Positive regulation of interleukin-10 production	IEA
GO:0034136	Process	Negative regulation of toll-like receptor 2 signaling pathway	IEA
GO:0034136	Process	Negative regulation of toll-like receptor 2 signaling pathway	ISS
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	IEA
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	ISS
GO:0034151	Process	Regulation of toll-like receptor 6 signaling pathway	IEA
GO:0034151	Process	Regulation of toll-like receptor 6 signaling pathway	ISS
GO:0034185	Function	Apolipoprotein binding	IPI	27477018
GO:0034186	Function	Apolipoprotein A-I binding	IPI	27477018
GO:0034189	Function	Very-low-density lipoprotein particle binding	IDA	27477018
GO:0034241	Process	Positive regulation of macrophage fusion	IEA
GO:0034241	Process	Positive regulation of macrophage fusion	ISS
GO:0034351	Process	Negative regulation of glial cell apoptotic process	IEA
GO:0034351	Process	Negative regulation of glial cell apoptotic process	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	IMP	29752066
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	IMP	32514138
GO:0038023	Function	Signaling receptor activity	ISS	29518356
GO:0038160	Process	CXCL12-activated CXCR4 signaling pathway	IMP	33097708
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042834	Function	Peptidoglycan binding	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IEA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	ISS
GO:0043268	Process	Positive regulation of potassium ion transport	IEA
GO:0043268	Process	Positive regulation of potassium ion transport	ISS	29518356
GO:0043277	Process	Apoptotic cell clearance	IEA
GO:0043277	Process	Apoptotic cell clearance	ISS
GO:0044853	Component	Plasma membrane raft	IDA	31413141
GO:0044877	Function	Protein-containing complex binding	IPI	29518356
GO:0045088	Process	Regulation of innate immune response	IBA
GO:0045088	Process	Regulation of innate immune response	IEA
GO:0045088	Process	Regulation of innate immune response	ISS
GO:0045672	Process	Positive regulation of osteoclast differentiation	IEA
GO:0045728	Process	Respiratory burst after phagocytosis	IEA
GO:0045728	Process	Respiratory burst after phagocytosis	ISS
GO:0045960	Process	Positive regulation of complement activation, classical pathway	IEA
GO:0045960	Process	Positive regulation of complement activation, classical pathway	ISS
GO:0048143	Process	Astrocyte activation	IEA
GO:0048143	Process	Astrocyte activation	ISS
GO:0048468	Process	Cell development	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0048678	Process	Response to axon injury	IMP	31235932, 32514138
GO:0048678	Process	Response to axon injury	ISS
GO:0050714	Process	Positive regulation of protein secretion	IMP	27044754
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IMP	29518357
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	ISS
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IBA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IDA	11602640
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0050866	Process	Negative regulation of cell activation	IEA
GO:0050866	Process	Negative regulation of cell activation	ISS
GO:0050921	Process	Positive regulation of chemotaxis	IEA
GO:0050921	Process	Positive regulation of chemotaxis	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	30683932
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0055088	Process	Lipid homeostasis	IEA
GO:0055088	Process	Lipid homeostasis	ISS
GO:0060075	Process	Regulation of resting membrane potential	IEA
GO:0060075	Process	Regulation of resting membrane potential	ISS	29518356
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IBA
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IEA
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IMP	32514138
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IMP	28855300, 33097708
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	ISS
GO:0061518	Process	Microglial cell proliferation	IEA
GO:0061518	Process	Microglial cell proliferation	ISS
GO:0061889	Process	Negative regulation of astrocyte activation	IEA
GO:0061889	Process	Negative regulation of astrocyte activation	ISS
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070269	Process	Pyroptotic inflammatory response	IEA
GO:0070269	Process	Pyroptotic inflammatory response	ISS
GO:0070345	Process	Negative regulation of fat cell proliferation	IEA
GO:0070345	Process	Negative regulation of fat cell proliferation	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	11602640
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	27995897
GO:0070392	Process	Detection of lipoteichoic acid	IEA
GO:0070891	Function	Lipoteichoic acid binding	IEA
GO:0071223	Process	Cellular response to lipoteichoic acid	IEA
GO:0071224	Process	Cellular response to peptidoglycan	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071396	Process	Cellular response to lipid	IEA
GO:0071396	Process	Cellular response to lipid	IMP	32514138
GO:0071402	Process	Cellular response to lipoprotein particle stimulus	IDA	27477018
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:0071640	Process	Regulation of macrophage inflammatory protein 1 alpha production	IEA
GO:0071640	Process	Regulation of macrophage inflammatory protein 1 alpha production	ISS	29518356
GO:0071813	Function	Lipoprotein particle binding	IDA	27477018
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0097028	Process	Dendritic cell differentiation	IDA	11602640
GO:0097062	Process	Dendritic spine maintenance	IEA
GO:0097062	Process	Dendritic spine maintenance	ISS
GO:0097110	Function	Scaffold protein binding	IPI	11602640
GO:0097242	Process	Amyloid-beta clearance	IDA	27477018
GO:0097242	Process	Amyloid-beta clearance	IDA	27477018
GO:0097242	Process	Amyloid-beta clearance	IEA
GO:0097367	Function	Carbohydrate derivative binding	IEA
GO:0098657	Process	Import into cell	IEA
GO:0098657	Process	Import into cell	ISS
GO:0110089	Process	Regulation of hippocampal neuron apoptotic process	IEA
GO:0110089	Process	Regulation of hippocampal neuron apoptotic process	ISS
GO:0120035	Process	Regulation of plasma membrane bounded cell projection organization	IBA
GO:0120035	Process	Regulation of plasma membrane bounded cell projection organization	IEA
GO:0120035	Process	Regulation of plasma membrane bounded cell projection organization	IGI	29518356
GO:0120035	Process	Regulation of plasma membrane bounded cell projection organization	ISS
GO:0120146	Function	Sulfatide binding	IDA	31902528
GO:0140052	Process	Cellular response to oxidised low-density lipoprotein particle stimulus	IDA	31902528
GO:0150062	Process	Complement-mediated synapse pruning	IEA
GO:0150062	Process	Complement-mediated synapse pruning	ISS
GO:0150076	Process	Neuroinflammatory response	IEA
GO:0150078	Process	Positive regulation of neuroinflammatory response	IEA
GO:0150079	Process	Negative regulation of neuroinflammatory response	IEA
GO:0150079	Process	Negative regulation of neuroinflammatory response	IMP	32514138
GO:0150079	Process	Negative regulation of neuroinflammatory response	ISS
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IEA
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IMP	33097708
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	ISS
GO:1900015	Process	Regulation of cytokine production involved in inflammatory response	IEA
GO:1900015	Process	Regulation of cytokine production involved in inflammatory response	ISS
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1900223	Process	Positive regulation of amyloid-beta clearance	IEA
GO:1900223	Process	Positive regulation of amyloid-beta clearance	IMP	31235932
GO:1900223	Process	Positive regulation of amyloid-beta clearance	ISS
GO:1900226	Process	Negative regulation of NLRP3 inflammasome complex assembly	IEA
GO:1900226	Process	Negative regulation of NLRP3 inflammasome complex assembly	IEA
GO:1900226	Process	Negative regulation of NLRP3 inflammasome complex assembly	IMP	32514138
GO:1900226	Process	Negative regulation of NLRP3 inflammasome complex assembly	ISS
GO:1901076	Process	Positive regulation of engulfment of apoptotic cell	IMP	24990881
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IEA
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	IEA
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	ISS	29518356
GO:1902227	Process	Negative regulation of macrophage colony-stimulating factor signaling pathway	IMP	33097708
GO:1902533	Process	Positive regulation of intracellular signal transduction	IDA	32514138
GO:1902533	Process	Positive regulation of intracellular signal transduction	IDA	31902528
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA
GO:1902533	Process	Positive regulation of intracellular signal transduction	ISS	29518356
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IDA	11602640
GO:1903082	Process	Positive regulation of C-C chemokine receptor CCR7 signaling pathway	IDA	11602640
GO:1903376	Process	Regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1903376	Process	Regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	ISS
GO:1903753	Process	Negative regulation of p38MAPK cascade	IEA
GO:1903753	Process	Negative regulation of p38MAPK cascade	ISS
GO:1903980	Process	Positive regulation of microglial cell activation	IBA
GO:1903980	Process	Positive regulation of microglial cell activation	IEA
GO:1903980	Process	Positive regulation of microglial cell activation	IMP	24990881
GO:1903980	Process	Positive regulation of microglial cell activation	ISS
GO:1904093	Process	Negative regulation of autophagic cell death	IEA
GO:1904093	Process	Negative regulation of autophagic cell death	ISS
GO:1904141	Process	Positive regulation of microglial cell migration	IEA
GO:1904141	Process	Positive regulation of microglial cell migration	IMP	33097708
GO:1904141	Process	Positive regulation of microglial cell migration	ISS	29518356
GO:1904646	Process	Cellular response to amyloid-beta	IDA	23459077, 29518356
GO:1904646	Process	Cellular response to amyloid-beta	IDA	29518356
GO:1904646	Process	Cellular response to amyloid-beta	IEA
GO:1904646	Process	Cellular response to amyloid-beta	ISS	29518356
GO:1904951	Process	Positive regulation of establishment of protein localization	IEA
GO:1904951	Process	Positive regulation of establishment of protein localization	ISS
GO:1905291	Process	Positive regulation of CAMKK-AMPK signaling cascade	IEA
GO:1905291	Process	Positive regulation of CAMKK-AMPK signaling cascade	ISS
GO:1905581	Process	Positive regulation of low-density lipoprotein particle clearance	IEA
GO:1905581	Process	Positive regulation of low-density lipoprotein particle clearance	ISS
GO:1905805	Process	Excitatory synapse pruning	IEA
GO:1905805	Process	Excitatory synapse pruning	ISS
GO:1905808	Process	Positive regulation of synapse pruning	IMP	33097708
GO:1905907	Process	Negative regulation of amyloid fibril formation	IEA
GO:1905907	Process	Negative regulation of amyloid fibril formation	ISS
GO:1990782	Function	Protein tyrosine kinase binding	IEA
GO:1990782	Function	Protein tyrosine kinase binding	ISS	29518356
GO:2000350	Process	Positive regulation of CD40 signaling pathway	IDA	11602640
GO:2001171	Process	Positive regulation of ATP biosynthetic process	IEA
GO:2001171	Process	Positive regulation of ATP biosynthetic process	ISS

Other IDs

• MIM: 605086
• HGNC: 17761
• e!Ensembl: ENSG00000095970

Protein

• UniProt ID: Q9NZC2
• Protein name: Triggering receptor expressed on myeloid cells 2 (TREM-2) (Triggering receptor expressed on monocytes 2)
• Protein function: Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding (PubMed:10799849). Acts as a receptor for amyloid-beta protein 42, a cleavage product of the amyloid-beta precursor protein APP,
• PDB: 5ELI, 5UD7, 5UD8, 6B8O, 6XDS, 6Y6C, 6YMQ, 6YYE, 6Z0G, 6Z0H, 6Z0I, 8T51, 8T59
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	19 → 129	Immunoglobulin V-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain, specifically in microglia and in the fusiform gyrus (at protein level) (PubMed:27477018, PubMed:28802038, PubMed:28855300, PubMed:29752066). Expressed on macrophages and dendritic cells but not on granulocytes o
• Sequence:

  MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHWGRRKAWCRQLGEKGPC
  QRVVSTHNLWLLSFLRRWNGSTAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADT
  LRKVLVEVLADPLDHRDAGDLWFPGESESFEDAHVEHSISRSLLEGEIPFPPTSILLLLA
  CIFLIKILAASALWAAAWHGQKPGTHPPSELDCGHDPGYQLQTLPGLRDT

• Sequence length: 230

Pathways

KEGG:

Osteoclast differentiation

Reactome:

Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
DAP12 interactions
DAP12 signaling
Other semaphorin interactions

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Frontotemporal dementia	Pathogenic	rs1765488318	RCV001810084	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	Likely pathogenic; Pathogenic	rs201258663, rs797044603, rs104893998, rs121908402, rs104894002, rs386834140, rs386834141, rs386834142, rs386834143, rs386834144	RCV000192213 RCV000192212 RCV000005523 RCV000005528 RCV000005529 RCV000050134 RCV000050135 RCV000050136 RCV000050137 RCV000050138	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	Likely pathogenic; Pathogenic	rs201258663, rs104893998, rs104894001, rs121908402, rs104894002, rs766712618, rs386834143, rs386834144	RCV004699120 RCV000721925 RCV000005527 RCV000721926 RCV000721927 RCV003334443 RCV000993682 RCV001810417	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	Pathogenic	rs104894002	RCV005089179	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TREM2-related disorder	Likely pathogenic; Pathogenic	rs121908402	RCV003398447	★★★★☆ 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
ALZHEIMER DISEASE 17	—	ClinVar, Disgenet ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASU-HAKOLA DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abulia	Abulia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	24663666, 28714976		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	29059709		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	26949937		★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alexia	Alexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	32508528	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23150908, 23391427, 23582655, 23800361, 23855982, 23855984, 24041969, 24139279, 24378087, 24439484, 24508568, 24663666, 24899047, 25027412, 25114068, 25160042, 25186950, 25329708, 25499537, 25545807, 25615530, 25723573, 25886450, 26021840, 26058841, 26076170, 26374897, 26414614, 26754172, 26754641, 26758262, 26941262, 26973105, 27036079, 27051467, 27084067, 27345793, 27477018, 27520774, 27522519, 27589997, 27658901, 27789408, 27887626, 27974666, 27995897, 28365005, 28376694, 28483841, 28714976, 28716534, 28789839, 28855300, 28987033, 29278889, 29395285, 29482610, 29486463, 29602048, 29685286, 29723869, 29750252, 29794134, 29880032, 29902745, 30097493, 30258121, 30390679, 30630532, 30859738, 30909239, 30917570, 30924900, 31068200, 31350575, 31413141, 31487521, 31513029, 31607776, 31779670, 31907987, 31915256, 32107424, 32267026, 32614373, 32630447, 32651314, 32830336, 32840654, 32894242, 32941707, 33032659, 33101276, 33198789, 33461764, 33613545, 33839686, 33947463, 34061398, 34172778, 34208838, 34404470, 34576031, 34615897, 34681730, 34739822, 34749609, 34831089, 35191835, 35210353, 35260199, 35379792, 35523454, 35527547, 35672339, 35806110, 35816404, 35864757, 35887031, 35896049, 35912412, 36112222, 36251323, 36750708, 36813542, 36922858, 36966244, 37085492, 37115208, 37198381, 37406134, 37642037, 37990275, 38172904, 38195725, 38226698, 38241287, 38527854, 39273614, 40051009	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	26332043, 27887626, 29377401, 31959733	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	37239970	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	23380991, 25160042, 28738127		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	24663666, 28714976		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	31350575, 31481003		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	23380991, 23407992, 23855984, 24078628, 24139279, 24184202, 24355566, 24725293, 24762945, 24951455, 25886450, 26021840, 26058841, 27196974, 28185874, 28789839, 29037207, 29256968, 29723869, 29794134, 29897015, 29906661, 30185230, 30222607, 30617257, 30630532, 31058951, 31134514, 31159836, 31235932		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	24663666, 28714976		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	23150908, 30617256		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	23150908		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	24663666, 28714976		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GENOMICS_ENGLAND_DG	26891767		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	24663666, 28714976		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	28894284		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	20640189, 25281018, 27477018, 28197095, 28426958, 29037207, 29518356, 30152135, 30283032, 30951849, 31134514, 31219699		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23800361, 24535663, 24990881, 25186950, 25281879, 25585992, 25936935, 26026943, 28302159, 28930663, 29557178, 30883352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24535663		★★☆☆☆ 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	25186950, 25585992, 28302159	Associate	★★☆☆☆ 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, Sporadic	Lateral Sclerosis	BEFREE	24535663		★☆☆☆☆ Found in Text Mining only
Anomia	Anomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	25027412	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	25027412		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	25027412	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23146195	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29740051, 35867799	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	25027412, 26507310, 36813542	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29752066		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	ORPHANET_DG	24139279, 25042114		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	Orphanet			★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	29748150, 30797549		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	26332043, 33486152	Associate	★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Broca Aphasia	Broca Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36741909	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	37164949	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33955820, 35359989	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34019793, 35120484	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	27148736	Inhibit	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	29740051		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	29740051	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	26754641	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30149915		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	30859738	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28398927, 28432014, 30149915, 30523715		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	28592261		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28432014		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	33486152	Stimulate	★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	26754641		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25027412, 31724242, 31959733, 35523454, 36966244, 37990275, 40051009	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28453482, 29689568		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	29377401	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	31779670	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31489935		★☆☆☆☆ Found in Text Mining only
Compulsive hoarding	Compulsive Hoarding	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27779645		★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	26332043		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	12913093, 23582655, 24899047, 24910390, 25615530, 26076170, 26332043, 26754641, 29480181, 29606617, 29720600, 29750252, 30157425, 30390679, 30530974, 30917570, 30924900, 31396216, 31779670, 31836585, 31907987, 31959733, 32935933, 33101276, 34061398, 34739822, 34831089, 34913545, 35120450, 35623081, 36750708, 37642037, 38226698, 38527854	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	GENOMICS_ENGLAND_DG	15883308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	17530208, 18546367, 23150934, 23318515, 23582655, 25893602, 26332043, 26694609, 26754641, 27167582, 29480181, 29720600, 29752066, 29906661, 30127720, 30390679, 30797549, 31464095, 31779670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	CTD_human_DG	18546367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	30292090	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	27167582		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	18790823, 19019460	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35623081	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	32267026	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28111922, 31571648		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28111922, 31571648		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28454543	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30076618		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27302364		★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	25027412	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29278889, 30909239		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	29278889, 30909239, 31959733	Associate	★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early-onset autosomal dominant Alzheimer disease	Alzheimer disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	29036448		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24910390	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30684126		★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	30152135	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26631031	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37187751	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	25585992		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	25585992	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	ORPHANET_DG	23380991		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	24663666, 28714976		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	26911435		★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	CTD_human_DG	18546367		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	37037945	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	23318515, 23759145, 23800361, 23870839, 24041969, 24119542, 24139279, 24910390, 24990881, 25042114, 25160042, 26374899, 26758262, 28559417, 28716534, 29336840, 29557178, 29578490, 29606617, 29748150, 30033062, 30111356, 30292090, 30883352		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	23800361, 24041969, 24139279, 24508568, 24910390, 25186950, 26758262, 28716534, 29606617, 30111356, 32935933, 35672339, 36474176, 36799407, 36813542, 37115208, 38226698, 40301889	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia	Frontotemporal dementia	GENOMICS_ENGLAND_DG	26891767		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	17088018, 23582655, 24910390, 25936935, 28483841, 29322490, 30797549		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15548205		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36713360	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15548205		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26506595		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32684831, 36713360	Associate	★☆☆☆☆ Found in Text Mining only
Grammar-specific speech disorder	Grammar-specific speech disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29523800, 31724242		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	31724242	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	31257031		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	35450027	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25047746, 25545807, 26780455, 28185874, 28453482, 29689568, 31283973, 31724242		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25347935		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30076618		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23800361, 28592261, 30149915, 30523715, 30859738, 31379859		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	29887864		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31384439		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34176389	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29956722	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	37115208	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	29720600		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	38527854	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30067868, 30683932		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	32941707	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33679809	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29104108		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27779645, 31489935		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	33101276	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26184544, 37187751	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29842899		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36741909	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	26332043		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31257031		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	36627355	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	25027412, 28453482, 29377401		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	23855984		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	23855984, 36813542	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17425404		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	18790823, 19019460, 23855984	Associate	★☆☆☆☆ Found in Text Mining only
Nasu-Hakola disease	Nasu-Hakola Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Necrosis	Necrosis	Pubtator	23582655	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26631031, 30683932, 31489935		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28483841	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26374899		★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	26332043		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	18790823, 23582655, 23800361, 24508568, 25186950, 26058841, 26076170, 26332043, 26374897, 27051467, 27589997, 27974666, 27995897, 28376694, 28483841, 28855300, 28987033, 29278889, 29740051, 30097493, 30390679, 31513029, 31959733, 32107424, 32614373, 33783963, 34061398, 34172778, 35523454, 35672339, 35752680, 35864757, 35912412, 36627355, 36813542, 38226698	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17239445, 23582655, 23800361, 24119542, 24508568, 24535663, 24990881, 25186950, 25281879, 25732305, 25936935, 26058955, 26076170, 26332043, 26365049, 26780455, 26976047, 27051467, 27974666, 27995897, 28376694, 28412600, 28426958, 28432014, 28442216, 28483841, 28490631, 28559417, 28602351, 28768545, 28855300, 28923481, 28930663, 29037207, 29040522, 29278889, 29523800, 29557178, 29587871, 29599291, 29611543, 29685286, 29768169, 29842899, 30033062, 30097493, 30390679, 30548312, 30883352, 31101881, 31265185, 31513029		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Alzheimer disease	Alzheimer disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28111922		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28454543	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36627355	Associate	★☆☆☆☆ 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
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	17966394		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29842899		★☆☆☆☆ Found in Text Mining only
Paranoid Disorders	Paranoia	Pubtator	25027412	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23800361, 24508568, 24602511, 24990881, 25186950, 25936935, 26058955, 26365049, 26651418, 26704436, 26758262, 28189343, 28214109, 28769786, 29407460, 29611543, 29621548, 30883352, 31370707, 31833018		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23800361, 24508568, 25186950, 25585992, 26758262	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32006615	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	24910390, 26076170	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	24910390		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	27624412, 29027827		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	27624412, 29027827		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	33486152, 35450027	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29051087		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29051087		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	23318515, 23759145, 23800361, 23870839, 24041969, 24119542, 24139279, 24910390, 25042114, 25160042, 26374899, 26758262, 28716534, 29336840, 29578490, 29606617, 30033062, 30111356		★☆☆☆☆ Found in Text Mining only
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	GENOMICS_ENGLAND_DG	12080485, 15883308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Pubtator	12080485, 12913093, 12925681, 19019460, 22080356, 23582655, 24886140, 24899047, 24910390, 25615530, 26332043, 26374897, 26754641, 27995897, 28716534, 29606617, 29720600, 30157425, 30924900, 31396216, 32107424, 34061398, 34576123, 35623081, 35672339, 37115208, 38226698, 39879812, 40301889	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	BEFREE	12913093, 12925681, 15883308, 17239445, 17530208, 18404378, 18546367, 21834902, 23318515, 23582655, 23870839, 24119542, 24899047, 24910390, 24990881, 25893602, 26001891, 26506595, 27995897, 28077724, 28214109, 28490631, 28716534, 29336840, 29578490, 29606617, 30033062, 30127720, 30797549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	CLINVAR_DG	12925681, 15883308, 18546367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	BEFREE	12913093, 17239445, 18404378, 18546367, 20500450, 21834902, 23870839, 24119542, 24612676, 24899047, 24910390, 24990881, 25615530, 25893602, 26001891, 26332043, 26506595, 26754641, 27859676, 27995897, 28077724, 28214109, 28490631, 28680398, 29578490, 29606617, 29720600, 30127720, 30157425, 30690291, 30797549		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	CLINVAR_DG	12080485, 12754369, 12925681, 15883308, 23399524, 25615530, 27995897, 28768830, 29142083		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	UNIPROT_DG	12080485, 12754369, 12925681, 15883308, 23399524, 25615530, 27995897, 28768830, 29142083		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	GENOMICS_ENGLAND_DG	24357685, 26891767		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Presenile dementia	Senile Dementia	BEFREE	12913093, 17530208, 18546367, 23150934, 23318515, 23582655, 25893602, 26694609, 26754641, 27167582, 29480181, 29720600, 29906661, 30127720, 30390679, 30797549, 31464095, 31779670		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	24663666, 28714976		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	30599136		★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	ORPHANET_DG	25042114		★☆☆☆☆ 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	23800361		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29017955	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27779645		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23146195, 28869414		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	32508528	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	26166951	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	32508528	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26332043, 31739114		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	26332043	Stimulate	★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	31384439		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24910390	Associate	★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	ORPHANET_DG	24139279, 25042114		★☆☆☆☆ Found in Text Mining only
Semantic dementia	Semantic Dementia	Orphanet			★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Paranoid Dementia	Senile Paranoid Dementia	CTD_human_DG	18546367		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	29587871, 31235932, 31481003		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	37164949	Associate	★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29104108		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33679809	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	29037207, 29073081, 29360998, 30232263		★☆☆☆☆ Found in Text Mining only
Temporal cortical atrophy	Temporal cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36438899	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36438899	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29906661		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	32935933	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum variant type	Xeroderma pigmentosum	Pubtator	32935933	Associate	★☆☆☆☆ Found in Text Mining only