EIF4A3 (eukaryotic translation initiation factor 4A3)

Gene

• Entrez ID: 9775
• Gene name: Eukaryotic translation initiation factor 4A3
• Gene symbol: EIF4A3
• Synonyms (NCBI Gene): DDX48, Fal1, MUK34, NMP265, NUK34, RCPS, eIF-4A-III, eIF4A-III, eIF4AIII
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA second

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777204	T>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030151	hsa-miR-26b-5p	Microarray	19088304
MIRT047149	hsa-miR-183-5p	CLASH	23622248
MIRT044207	hsa-miR-99b-5p	CLASH	23622248
MIRT043493	hsa-miR-331-3p	CLASH	23622248
MIRT042843	hsa-miR-324-3p	CLASH	23622248
MIRT040853	hsa-miR-18a-3p	CLASH	23622248
MIRT036955	hsa-miR-877-3p	CLASH	23622248
MIRT036955	hsa-miR-877-3p	CLASH	23622248
MIRT681809	hsa-miR-5197-5p	HITS-CLIP	23706177
MIRT681808	hsa-miR-6888-5p	HITS-CLIP	23706177
MIRT681807	hsa-miR-3929	HITS-CLIP	23706177
MIRT681806	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681805	hsa-miR-4478	HITS-CLIP	23706177
MIRT681804	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681803	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681802	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681801	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681800	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681799	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681798	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681797	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681796	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681795	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681794	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681793	hsa-miR-4458	HITS-CLIP	23706177
MIRT681792	hsa-miR-4500	HITS-CLIP	23706177
MIRT681791	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681790	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681789	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681788	hsa-miR-3622b-5p	HITS-CLIP	23706177
MIRT681787	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT681786	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT681785	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT681784	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT681783	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT681782	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT681781	hsa-miR-1233-5p	HITS-CLIP	23706177
MIRT681780	hsa-miR-6778-5p	HITS-CLIP	23706177
MIRT681779	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT681778	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT681777	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT681776	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT681775	hsa-miR-3689c	HITS-CLIP	23706177
MIRT681774	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT681773	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT681772	hsa-miR-665	HITS-CLIP	23706177
MIRT561070	hsa-miR-548u	PAR-CLIP	20371350
MIRT561069	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT561068	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT561067	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT561066	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT561065	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT561064	hsa-miR-8087	PAR-CLIP	20371350
MIRT561063	hsa-miR-6124	PAR-CLIP	20371350
MIRT545412	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT545411	hsa-miR-3153	PAR-CLIP	20371350
MIRT545410	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT545409	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT545414	hsa-miR-3976	PAR-CLIP	21572407
MIRT545415	hsa-miR-6871-5p	PAR-CLIP	21572407
MIRT545413	hsa-miR-593-5p	PAR-CLIP	21572407
MIRT545412	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT545411	hsa-miR-3153	PAR-CLIP	21572407
MIRT545410	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT545409	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT545408	hsa-miR-3115	PAR-CLIP	21572407
MIRT681809	hsa-miR-5197-5p	HITS-CLIP	23706177
MIRT681808	hsa-miR-6888-5p	HITS-CLIP	23706177
MIRT681807	hsa-miR-3929	HITS-CLIP	23706177
MIRT681806	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681805	hsa-miR-4478	HITS-CLIP	23706177
MIRT681804	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681803	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681802	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681801	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681800	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681799	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681798	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681797	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681796	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681795	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681794	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681793	hsa-miR-4458	HITS-CLIP	23706177
MIRT681792	hsa-miR-4500	HITS-CLIP	23706177
MIRT681791	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681790	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681789	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681788	hsa-miR-3622b-5p	HITS-CLIP	23706177
MIRT681787	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT681786	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT681785	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT681784	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT681783	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT681782	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT681781	hsa-miR-1233-5p	HITS-CLIP	23706177
MIRT681780	hsa-miR-6778-5p	HITS-CLIP	23706177
MIRT681779	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT681778	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT681777	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT681776	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT681775	hsa-miR-3689c	HITS-CLIP	23706177
MIRT681774	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT681773	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT681772	hsa-miR-665	HITS-CLIP	23706177
MIRT561070	hsa-miR-548u	PAR-CLIP	20371350
MIRT561069	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT561068	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT561067	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT561066	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT561065	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT561064	hsa-miR-8087	PAR-CLIP	20371350
MIRT561063	hsa-miR-6124	PAR-CLIP	20371350
MIRT545412	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT545411	hsa-miR-3153	PAR-CLIP	20371350
MIRT545410	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT545409	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT545414	hsa-miR-3976	PAR-CLIP	21572407
MIRT545415	hsa-miR-6871-5p	PAR-CLIP	21572407
MIRT545413	hsa-miR-593-5p	PAR-CLIP	21572407
MIRT545412	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT545411	hsa-miR-3153	PAR-CLIP	21572407
MIRT545410	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT545409	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT545408	hsa-miR-3115	PAR-CLIP	21572407
MIRT957846	hsa-miR-132	CLIP-seq
MIRT957847	hsa-miR-212	CLIP-seq
MIRT957848	hsa-miR-2278	CLIP-seq
MIRT957849	hsa-miR-3156-3p	CLIP-seq
MIRT957850	hsa-miR-4287	CLIP-seq
MIRT957851	hsa-miR-4301	CLIP-seq
MIRT957852	hsa-miR-4311	CLIP-seq
MIRT957853	hsa-miR-4468	CLIP-seq
MIRT957854	hsa-miR-4469	CLIP-seq
MIRT957855	hsa-miR-4495	CLIP-seq
MIRT957856	hsa-miR-4666-5p	CLIP-seq
MIRT957857	hsa-miR-4685-3p	CLIP-seq
MIRT957858	hsa-miR-4699-3p	CLIP-seq
MIRT957859	hsa-miR-4773	CLIP-seq
MIRT957860	hsa-miR-4795-3p	CLIP-seq
MIRT1983727	hsa-miR-1253	CLIP-seq
MIRT1983728	hsa-miR-4712-3p	CLIP-seq
MIRT2219049	hsa-miR-125a-3p	CLIP-seq
MIRT957846	hsa-miR-132	CLIP-seq
MIRT957847	hsa-miR-212	CLIP-seq
MIRT2219050	hsa-miR-214	CLIP-seq
MIRT2219051	hsa-miR-3619-5p	CLIP-seq
MIRT2219052	hsa-miR-3665	CLIP-seq
MIRT957850	hsa-miR-4287	CLIP-seq
MIRT2219053	hsa-miR-4433	CLIP-seq
MIRT957854	hsa-miR-4469	CLIP-seq
MIRT2219054	hsa-miR-4672	CLIP-seq
MIRT957857	hsa-miR-4685-3p	CLIP-seq
MIRT2219055	hsa-miR-4782-5p	CLIP-seq
MIRT2219056	hsa-miR-4799-5p	CLIP-seq
MIRT2219057	hsa-miR-761	CLIP-seq
MIRT2219050	hsa-miR-214	CLIP-seq
MIRT2219051	hsa-miR-3619-5p	CLIP-seq
MIRT2219052	hsa-miR-3665	CLIP-seq
MIRT2219053	hsa-miR-4433	CLIP-seq
MIRT2219054	hsa-miR-4672	CLIP-seq
MIRT2219057	hsa-miR-761	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	16209946
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	29301961
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IDA	10523622
GO:0003724	Function	RNA helicase activity	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IDA	22961380
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	10523622, 14730019, 14973490, 15361857, 16170325, 16189514, 16209946, 16601204, 16797590, 16923391, 16931718, 18066079, 18423201, 19410547, 19417104, 19478851, 20123736, 20479275, 21576267, 22365833, 22522823, 22961380, 23084401, 23236153, 25220460, 25416956, 26382858, 28514442, 299
GO:0005524	Function	ATP binding	IDA	10523622
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	29301961
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005737	Component	Cytoplasm	IDA	10523622
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006406	Process	MRNA export from nucleus	NAS	11532962
GO:0006417	Process	Regulation of translation	IEA
GO:0008143	Function	Poly(A) binding	IDA	10523622
GO:0008306	Process	Associative learning	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017148	Process	Negative regulation of translation	IDA	10523622
GO:0030425	Component	Dendrite	IEA
GO:0035145	Component	Exon-exon junction complex	IDA	16601204
GO:0035145	Component	Exon-exon junction complex	IPI	16931718
GO:0035145	Component	Exon-exon junction complex	ISS
GO:0035368	Function	Selenocysteine insertion sequence binding	IEA
GO:0035613	Function	RNA stem-loop binding	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045727	Process	Positive regulation of translation	IMP	18423201
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IMP	24360810
GO:0051028	Process	MRNA transport	IEA
GO:0071006	Component	U2-type catalytic step 1 spliceosome	IDA	29301961
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638, 22961380
GO:0072715	Process	Cellular response to selenite ion	IEA
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099578	Process	Regulation of translation at postsynapse, modulating synaptic transmission	IEA
GO:1904570	Process	Negative regulation of selenocysteine incorporation	IEA
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000622	Process	Regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA	19478851
GO:2000622	Process	Regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	ISS

Other IDs

• MIM: 608546
• HGNC: 18683
• e!Ensembl: ENSG00000141543

Protein

• UniProt ID: P38919
• Protein name: Eukaryotic initiation factor 4A-III (eIF-4A-III) (eIF4A-III) (EC 3.6.4.13) (ATP-dependent RNA helicase DDX48) (ATP-dependent RNA helicase eIF4A-3) (DEAD box protein 48) (Eukaryotic initiation factor 4A-like NUK-34) (Eukaryotic translation initiation facto
• Protein function: ATP-dependent RNA helicase (PubMed:16170325). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:22961380, PubMed:28076346, PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprot
• PDB: 2HXY, 2HYI, 2J0Q, 2J0S, 2J0U, 2XB2, 3EX7, 4C9B, 5MQF, 5XJC, 5YZG, 6ICZ, 6QDV, 6YVH, 7A5P, 7W59, 7W5A, 7W5B, 7ZNJ, 8C6J, 8I0W, 9FMD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00270	DEAD	62 → 228	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	263 → 372	Helicase conserved C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10623621}.
• Sequence:

  MATTATMATSGSARKRLLKEEDMTKVEFETSEEVDVTPTFDTMGLREDLLRGIYAYGFEK
  PSAIQQRAIKQIIKGRDVIAQSQSGTGKTATFSISVLQCLDIQVRETQALILAPTRELAV
  QIQKGLLALGDYMNVQCHACIGGTNVGEDIRKLDYGQHVVAGTPGRVFDMIRRRSLRTRA
  IKMLVLDEADEMLNKGFKEQIYDVYRYLPPATQVVLISATLPHEILEMTNKFMTDPIRIL
  VKRDELTLEGIKQFFVAVEREEWKFDTLCDLYDTLTITQAVIFCNTKRKVDWLTEKMREA
  NFTVSSMHGDMPQKERESIMKEFRSGASRVLISTDVWARGLDVPQVSLIINYDLPNNREL
  YIHRIGRSGRYGRKGVAINFVKNDDIRILRDIEQYYSTQIDEMPMNVADLI

• Sequence length: 411

Pathways

KEGG:

Nucleocytoplasmic transport
mRNA surveillance pathway
Spliceosome

Reactome:

ISG15 antiviral mechanism
Transport of Mature mRNA derived from an Intron-Containing Transcript
Deadenylation of mRNA
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

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
Richieri Costa-Pereira syndrome	Pathogenic	rs587777204	RCV000087740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EIF4A3-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RICHIERI COSTA PEREIRA SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired clubfoot	Acquired Clubfoot	GENOMICS_ENGLAND_DG	9449664		★☆☆☆☆ Found in Text Mining only
Acrofacial Dysostosis	Acrofacial Dysostosis	BEFREE	25865758		★☆☆☆☆ Found in Text Mining only
Aplasia of the epiglottis	Aplasia of the epiglottis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32965163, 36443711	Associate	★☆☆☆☆ Found in Text Mining only
Burn-Mckeown syndrome	Burn-Mckeown Syndrome	BEFREE	25865758		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36443711, 37079240	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33750838, 35509064, 36419260	Associate	★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	19367286		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34898474	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26989025, 30267804		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32857753, 34337040, 34660182, 37940881, 39810713	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	GENOMICS_ENGLAND_DG	9449664		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	9449664		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30338819		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	GENOMICS_ENGLAND_DG	9449664		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35546509	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30178844, 30873881		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30178844		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36221055	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36221055	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30470262		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32926734, 37322413	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30470262		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	30062828		★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36369467	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23376982		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33741901	Associate	★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	28334780		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29421439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30178844		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12127692, 30556865, 31637706		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26825907		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25203321, 30267804, 30588240, 31610208		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35813236	Associate	★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	28334780		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	28273136	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31502863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35680727	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18427545, 25203321, 26825907, 26989025, 29987852, 30746742		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28854421		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29987852		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37098796	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15796914		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36369467	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26825907, 30746742		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	25865758		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	GENOMICS_ENGLAND_DG	9449664		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Richieri Costa Pereira syndrome	Richieri Costa Pereira Syndrome	GENOMICS_ENGLAND_DG	23376982, 24360810, 29112243, 9449664		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Richieri Costa Pereira syndrome	Richieri Costa Pereira Syndrome	ORPHANET_DG	24360804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Richieri Costa Pereira syndrome	Richieri Costa Pereira Syndrome	BEFREE	24360810, 28334780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Richieri Costa Pereira syndrome	Richieri Costa Pereira Syndrome	UNIPROT_DG	24360810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Richieri Costa Pereira syndrome	Richieri Costa Pereira Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Richieri Costa Pereira syndrome	Richieri Costa Pereira Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Richieri Costa-Pereira syndrome	Richieri Costa Pereira Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma	Carcinoma	BEFREE	31298329		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37902305	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12127692, 30556865, 31637706		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18427545		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33954199	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26825907		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26825907		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33176280	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37180585, 37777564	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34278492, 35513835	Associate	★☆☆☆☆ Found in Text Mining only
Vaginal Neoplasms	Vaginal neoplasms	Pubtator	19367286	Associate	★☆☆☆☆ Found in Text Mining only