EEF1A2 (eukaryotic translation elongation factor 1 alpha 2)

Gene

• Entrez ID: 1917
• Gene name: Eukaryotic translation elongation factor 1 alpha 2
• Gene symbol: EEF1A2
• Synonyms (NCBI Gene): DEE33, EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN, STNL
• Chromosome: 20
• Chromosome location: 20q13.33
• Summary: This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the othe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777162	C>T	Pathogenic	Coding sequence variant, missense variant
rs757556226	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205865	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs879255373	TTCTGCGCC>-,TTCTGCGCCTTCTGCGCC	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe insertion, inframe deletion
rs886039346	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs886041197	C>T	Pathogenic	Missense variant, coding sequence variant
rs886042041	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1057521655	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795618	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691663	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555883345	->C	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1555883384	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555883486	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555883501	T>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555883505	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555883975	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1568994522	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020876	hsa-miR-155-5p	Proteomics	18668040
MIRT024775	hsa-miR-215-5p	Microarray	19074876
MIRT026692	hsa-miR-192-5p	Microarray	19074876
MIRT043720	hsa-miR-342-3p	CLASH	23622248
MIRT054492	hsa-miR-663a	Luciferase reporter assay, Western blot, qRT-PCR	23695020
MIRT054492	hsa-miR-663a	Luciferase reporter assay, Western blot, qRT-PCR	23695020
MIRT054492	hsa-miR-663a	Luciferase reporter assay, Western blot, qRT-PCR	23695020
MIRT054493	hsa-miR-744-5p	Luciferase reporter assay, Western blot, qRT-PCR	23695020
MIRT054493	hsa-miR-744-5p	Luciferase reporter assay, Western blot, qRT-PCR	23695020
MIRT054493	hsa-miR-744-5p	Luciferase reporter assay, Western blot, qRT-PCR	23695020
MIRT440750	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440750	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT953085	hsa-miR-1238	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT953087	hsa-miR-2277-5p	CLIP-seq
MIRT953088	hsa-miR-3124-3p	CLIP-seq
MIRT953089	hsa-miR-3178	CLIP-seq
MIRT953090	hsa-miR-3180	CLIP-seq
MIRT953091	hsa-miR-3180-3p	CLIP-seq
MIRT953092	hsa-miR-3185	CLIP-seq
MIRT953093	hsa-miR-3196	CLIP-seq
MIRT953094	hsa-miR-3654	CLIP-seq
MIRT953095	hsa-miR-4436b-5p	CLIP-seq
MIRT953096	hsa-miR-4486	CLIP-seq
MIRT953097	hsa-miR-4488	CLIP-seq
MIRT953098	hsa-miR-4511	CLIP-seq
MIRT953099	hsa-miR-4535	CLIP-seq
MIRT953100	hsa-miR-4635	CLIP-seq
MIRT953101	hsa-miR-4697-5p	CLIP-seq
MIRT953102	hsa-miR-4709-3p	CLIP-seq
MIRT953103	hsa-miR-492	CLIP-seq
MIRT953104	hsa-miR-548ad	CLIP-seq
MIRT953105	hsa-miR-566	CLIP-seq
MIRT953106	hsa-miR-661	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq
MIRT953108	hsa-miR-671-5p	CLIP-seq
MIRT953109	hsa-miR-744	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT1548170	hsa-miR-342-5p	CLIP-seq
MIRT1548171	hsa-miR-4466	CLIP-seq
MIRT1548172	hsa-miR-4664-5p	CLIP-seq
MIRT1548173	hsa-miR-4706	CLIP-seq
MIRT1548174	hsa-miR-4749-5p	CLIP-seq
MIRT1548175	hsa-miR-4787-3p	CLIP-seq
MIRT1548176	hsa-miR-4787-5p	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq
MIRT1548177	hsa-miR-675	CLIP-seq
MIRT953109	hsa-miR-744	CLIP-seq
MIRT953085	hsa-miR-1238	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT953088	hsa-miR-3124-3p	CLIP-seq
MIRT953089	hsa-miR-3178	CLIP-seq
MIRT953090	hsa-miR-3180	CLIP-seq
MIRT953091	hsa-miR-3180-3p	CLIP-seq
MIRT953092	hsa-miR-3185	CLIP-seq
MIRT953093	hsa-miR-3196	CLIP-seq
MIRT953094	hsa-miR-3654	CLIP-seq
MIRT953095	hsa-miR-4436b-5p	CLIP-seq
MIRT953096	hsa-miR-4486	CLIP-seq
MIRT953097	hsa-miR-4488	CLIP-seq
MIRT953098	hsa-miR-4511	CLIP-seq
MIRT953099	hsa-miR-4535	CLIP-seq
MIRT953100	hsa-miR-4635	CLIP-seq
MIRT953101	hsa-miR-4697-5p	CLIP-seq
MIRT953102	hsa-miR-4709-3p	CLIP-seq
MIRT953103	hsa-miR-492	CLIP-seq
MIRT953105	hsa-miR-566	CLIP-seq
MIRT953106	hsa-miR-661	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq
MIRT953108	hsa-miR-671-5p	CLIP-seq
MIRT2217006	hsa-miR-1538	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT2217007	hsa-miR-31	CLIP-seq
MIRT2217008	hsa-miR-3128	CLIP-seq
MIRT2217009	hsa-miR-3166	CLIP-seq
MIRT953089	hsa-miR-3178	CLIP-seq
MIRT953090	hsa-miR-3180	CLIP-seq
MIRT953091	hsa-miR-3180-3p	CLIP-seq
MIRT953092	hsa-miR-3185	CLIP-seq
MIRT953093	hsa-miR-3196	CLIP-seq
MIRT2217010	hsa-miR-3689d	CLIP-seq
MIRT953096	hsa-miR-4486	CLIP-seq
MIRT953097	hsa-miR-4488	CLIP-seq
MIRT953098	hsa-miR-4511	CLIP-seq
MIRT2217011	hsa-miR-4512	CLIP-seq
MIRT953100	hsa-miR-4635	CLIP-seq
MIRT953101	hsa-miR-4697-5p	CLIP-seq
MIRT953102	hsa-miR-4709-3p	CLIP-seq
MIRT2217012	hsa-miR-4720-5p	CLIP-seq
MIRT2217013	hsa-miR-4745-3p	CLIP-seq
MIRT2217014	hsa-miR-4757-5p	CLIP-seq
MIRT2217015	hsa-miR-4771	CLIP-seq
MIRT1548175	hsa-miR-4787-3p	CLIP-seq
MIRT2217016	hsa-miR-4799-3p	CLIP-seq
MIRT2217017	hsa-miR-658	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq
MIRT953108	hsa-miR-671-5p	CLIP-seq
MIRT953109	hsa-miR-744	CLIP-seq
MIRT953086	hsa-miR-1908	CLIP-seq
MIRT953107	hsa-miR-663	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003746	Function	Translation elongation factor activity	IBA
GO:0003746	Function	Translation elongation factor activity	IEA
GO:0003746	Function	Translation elongation factor activity	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	ISS
GO:0005515	Function	Protein binding	IPI	18448518, 19559761, 25416956, 28514442, 31046837, 31515488, 32296183, 32814053, 33961781
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IDA	12426392
GO:0005737	Component	Cytoplasm	IDA	12426392
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	36697828
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005853	Component	Eukaryotic translation elongation factor 1 complex	IEA
GO:0006412	Process	Translation	IBA
GO:0006412	Process	Translation	IEA
GO:0006414	Process	Translational elongation	IBA
GO:0006414	Process	Translational elongation	IEA
GO:0006414	Process	Translational elongation	IEA
GO:0006414	Process	Translational elongation	ISS
GO:0008135	Function	Translation factor activity, RNA binding	NAS	8812466
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	17088255
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0090218	Process	Positive regulation of lipid kinase activity	IDA	17088255
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	NAS	20797626
GO:1904714	Process	Regulation of chaperone-mediated autophagy	NAS	20797626

Other IDs

• MIM: 602959
• HGNC: 3192
• e!Ensembl: ENSG00000101210

Protein

• UniProt ID: Q05639
• Protein name: Elongation factor 1-alpha 2 (EF-1-alpha-2) (EC 3.6.5.-) (Eukaryotic elongation factor 1 A-2) (eEF1A-2) (Statin-S1)
• Protein function: Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis. Base pairing between the mRNA codon and the aa-tRNA anticodon promote
• PDB: 3C5J, 8B6Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00009	GTP_EFTU	5 → 238	Elongation factor Tu GTP binding domain	Domain
  PF03144	GTP_EFTU_D2	260 → 327	Elongation factor Tu domain 2	Domain
  PF03143	GTP_EFTU_D3	333 → 442	Elongation factor Tu C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain, heart, and skeletal muscle.
• Sequence:

  MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEKEAAEMGKGSFKYAWVL
  DKLKAERERGITIDISLWKFETTKYYITIIDAPGHRDFIKNMITGTSQADCAVLIVAAGV
  GEFEAGISKNGQTREHALLAYTLGVKQLIVGVNKMDSTEPAYSEKRYDEIVKEVSAYIKK
  IGYNPATVPFVPISGWHGDNMLEPSPNMPWFKGWKVERKEGNASGVSLLEALDTILPPTR
  PTDKPLRLPLQDVYKIGGIGTVPVGRVETGILRPGMVVTFAPVNITTEVKSVEMHHEALS
  EALPGDNVGFNVKNVSVKDIRRGNVCGDSKSDPPQEAAQFTSQVIILNHPGQISAGYSPV
  IDCHTAHIACKFAELKEKIDRRSGKKLEDNPKSLKSGDAAIVEMVPGKPMCVESFSQYPP
  LGRFAVRDMRQTVAVGVIKNVEKKSGGAGKVTKSAQKAQKAGK

• Sequence length: 463

Pathways

KEGG:

Nucleocytoplasmic transport
Legionellosis
Leishmaniasis

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
Complex neurodevelopmental disorder	Pathogenic	rs587777162	RCV006249589	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 33	Pathogenic; Likely pathogenic	rs2082414178, rs587777162, rs2145946848, rs2145938177, rs2516786992, rs786205866, rs2516783448, rs2516773213, rs886039346, rs886042041, rs886041197, rs1057521655, rs1555883505, rs1555883384, rs1555883869, rs1555883501, rs1405800415, rs2082362479, rs2082424831, rs2082366378	RCV001318268 RCV000087144 RCV002005428 RCV001975239 RCV002466321 RCV000193799 RCV002963044 RCV003223487 RCV000688443 RCV000703667 RCV001218047 RCV002289562 RCV000626030 RCV000653110 RCV000653112 RCV000687651 RCV000760283 RCV002463773 RCV001260873 RCV001252231	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy	Pathogenic; Likely pathogenic	rs587777162, rs786205866, rs886041197, rs1555883505, rs1555883384, rs2082362479, rs1359844902	RCV001030061 RCV001030064 RCV001030062 RCV001030066 RCV001030067 RCV001030068 RCV001030063	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EEF1A2-related disorder	Pathogenic; Likely pathogenic	rs587777162, rs786205865, rs1555883505, rs1600908420	RCV003894943 RCV003397436 RCV004527627 RCV004545821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs587777162, rs886042041	RCV000679972 RCV001260699	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 38	Pathogenic; Likely pathogenic	rs587777162, rs786205866, rs886042041, rs886041197, rs865888375, rs1555883505, rs1405800415, rs2082362479	RCV001775080 RCV000172840 RCV002502091 RCV001335885 RCV005871176 RCV000763059 RCV000760283 RCV002463773	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary spastic paraplegia 46	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ablepharon	Ablepharon	BEFREE	28493348		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16369491		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16369491		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	30616868		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28528805		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28528805		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18952640	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31477274		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	19309558	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15843208, 16156888, 16897428, 20819441		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	1370760, 16156888, 19646290, 24039759, 25951175, 25971350, 38012382	Associate	★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	29285760		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31220107	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17437010		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24885363	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27122673	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23533664, 29342219		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18661515	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17437010	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24339735	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12053177, 14588074, 17908984, 18661515		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28911200		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30952118		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36518255, 37626132	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28177905	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	30267364		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31085861		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26740508	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disturbance in mood	Mood Disorder	BEFREE	29538685		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10328528		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	26831335, 31494731, 31571277		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	29326293		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	26059197	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	34884578	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23647072, 30370994, 31477274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	32196822	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Generalized	Generalized epilepsy	Pubtator	31327507	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	26682508, 31477274		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33	Epileptic encephalopathy	UNIPROT_DG	23033978, 23647072		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33	Epileptic encephalopathy	CLINVAR_DG	24697219, 26682508, 26795593, 27441201, 28378778, 28911200, 3066688		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	30109124		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	31647199		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	26795593		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	BEFREE	28911200		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hemophilia A	Hemophilia a	Pubtator	30996250, 37792826	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	BEFREE	30898672		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31539873		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38012382	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	18323783	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28582689, 31481291		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30370994, 31477274		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	32196822	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	27082702		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32347192	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17825975		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18161050		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23533664, 38273748	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29342219, 33728331	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15022330		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32881299	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15843208, 16156888, 16897428, 20819441		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23533664, 29342219		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12053177, 14588074, 17908984, 18661515		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19138673, 25744894		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18649364, 28923030		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25601347		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18649364, 23695020, 30420615		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16156888, 16897428		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16156888		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31758821		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38	Mental retardation	UNIPROT_DG	24697219		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	29887826		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	17640869, 28378778		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20505761		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	26682508		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16369491, 16517066, 16897428, 17437010, 19138673, 20505761, 20819441, 21851817, 28923030, 30420615		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24697219		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32196822	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26740508, 28378778, 31477274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	CLINVAR_DG	26795593		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24510995, 30660770		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30267364		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	38247858	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12053177, 14588074, 17908984, 18661515		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12053177		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16156888, 17437010, 18661515, 28156048	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26059197	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19138673, 25744894		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15390056, 20177695, 26831335, 27818350, 28262813, 28493348, 28505983, 28528805, 28529730, 28669542, 28684915, 28942154, 29051091, 29384860, 29427240, 29458074, 29538685, 29548954, 29614696, 29659494, 29936120, 30267364, 30337863, 30440081, 30451276, 30638820, 30641837, 30681186, 30839077, 30898672, 31085861, 31350641, 31455999, 31481291, 31494731, 31621625, 31665685, 31687126, 31849760		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37051183	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	26831335, 27818350, 28678830, 29427344, 29458074, 31466414, 31758821		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	18378882, 20177695, 23938256, 28910611		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	31477274		★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	20505761		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31085861		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28923030		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19707524, 22095224, 28923030, 33934205	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30267364		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	29887129, 31687125		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	26740508	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	40016701	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	19309558	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	26682508		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	31060986		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25601347		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16367923	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31220107		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31220107	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28156048	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36637958	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37725244	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG	26795593		★☆☆☆☆ Found in Text Mining only