WNT3A (Wnt family member 3A)

Gene

• Entrez ID: 89780
• Gene name: Wnt family member 3A
• Gene symbol: WNT3A
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1q42.13
• Summary: The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryog

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000282	hsa-miR-15a-5p	Luciferase reporter assay	18931683
MIRT003430	hsa-miR-16-5p	Luciferase reporter assay	18931683
MIRT003430	hsa-miR-16-5p	Review	20130964
MIRT000282	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR	21106054
MIRT000282	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR	21106054
MIRT000282	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR	21106054
MIRT021725	hsa-miR-132-3p	Microarray	17612493
MIRT021973	hsa-miR-128-3p	Microarray	17612493
MIRT025061	hsa-miR-181a-5p	Microarray	17612493
MIRT027132	hsa-miR-103a-3p	Sequencing	20371350
MIRT003430	hsa-miR-16-5p	Sequencing	20371350
MIRT736324	hsa-miR-1236-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR, In situ hybridization, Flow cytometry	33133267
MIRT755445	hsa-miR-503-5p	Luciferase reporter assay, Western blotting, qRT-PCR	36555553
MIRT1493676	hsa-miR-103a	CLIP-seq
MIRT1493677	hsa-miR-107	CLIP-seq
MIRT1493678	hsa-miR-1224-3p	CLIP-seq
MIRT1493679	hsa-miR-1255a	CLIP-seq
MIRT1493680	hsa-miR-1255b	CLIP-seq
MIRT1493681	hsa-miR-1260	CLIP-seq
MIRT1493682	hsa-miR-1260b	CLIP-seq
MIRT1493683	hsa-miR-1280	CLIP-seq
MIRT1493684	hsa-miR-1304	CLIP-seq
MIRT1493685	hsa-miR-138	CLIP-seq
MIRT1493686	hsa-miR-1469	CLIP-seq
MIRT1493687	hsa-miR-1587	CLIP-seq
MIRT1493688	hsa-miR-15a	CLIP-seq
MIRT1493689	hsa-miR-15b	CLIP-seq
MIRT1493690	hsa-miR-16	CLIP-seq
MIRT1493691	hsa-miR-1827	CLIP-seq
MIRT1493692	hsa-miR-195	CLIP-seq
MIRT1493693	hsa-miR-2110	CLIP-seq
MIRT1493694	hsa-miR-2467-3p	CLIP-seq
MIRT1493695	hsa-miR-298	CLIP-seq
MIRT1493696	hsa-miR-3074-5p	CLIP-seq
MIRT1493697	hsa-miR-3143	CLIP-seq
MIRT1493698	hsa-miR-3144-5p	CLIP-seq
MIRT1493699	hsa-miR-3150a-3p	CLIP-seq
MIRT1493700	hsa-miR-3158-5p	CLIP-seq
MIRT1493701	hsa-miR-3179	CLIP-seq
MIRT1493702	hsa-miR-3186-5p	CLIP-seq
MIRT1493703	hsa-miR-3201	CLIP-seq
MIRT1493704	hsa-miR-3202	CLIP-seq
MIRT1493705	hsa-miR-339-5p	CLIP-seq
MIRT1493706	hsa-miR-3605-5p	CLIP-seq
MIRT1493707	hsa-miR-3652	CLIP-seq
MIRT1493708	hsa-miR-3681	CLIP-seq
MIRT1493709	hsa-miR-3936	CLIP-seq
MIRT1493710	hsa-miR-410	CLIP-seq
MIRT1493711	hsa-miR-424	CLIP-seq
MIRT1493712	hsa-miR-4417	CLIP-seq
MIRT1493713	hsa-miR-4430	CLIP-seq
MIRT1493714	hsa-miR-4450	CLIP-seq
MIRT1493715	hsa-miR-4456	CLIP-seq
MIRT1493716	hsa-miR-4492	CLIP-seq
MIRT1493717	hsa-miR-4498	CLIP-seq
MIRT1493718	hsa-miR-4505	CLIP-seq
MIRT1493719	hsa-miR-4520a-3p	CLIP-seq
MIRT1493720	hsa-miR-4520b-3p	CLIP-seq
MIRT1493721	hsa-miR-4524	CLIP-seq
MIRT1493722	hsa-miR-4651	CLIP-seq
MIRT1493723	hsa-miR-4656	CLIP-seq
MIRT1493724	hsa-miR-4675	CLIP-seq
MIRT1493725	hsa-miR-4680-3p	CLIP-seq
MIRT1493726	hsa-miR-4711-5p	CLIP-seq
MIRT1493727	hsa-miR-4741	CLIP-seq
MIRT1493728	hsa-miR-4764-3p	CLIP-seq
MIRT1493729	hsa-miR-4786-3p	CLIP-seq
MIRT1493730	hsa-miR-4791	CLIP-seq
MIRT1493731	hsa-miR-490-5p	CLIP-seq
MIRT1493732	hsa-miR-497	CLIP-seq
MIRT1493733	hsa-miR-503	CLIP-seq
MIRT1493734	hsa-miR-5095	CLIP-seq
MIRT1493735	hsa-miR-541	CLIP-seq
MIRT1493736	hsa-miR-543	CLIP-seq
MIRT1493737	hsa-miR-548aa	CLIP-seq
MIRT1493738	hsa-miR-600	CLIP-seq
MIRT1493739	hsa-miR-608	CLIP-seq
MIRT1493740	hsa-miR-646	CLIP-seq
MIRT1493741	hsa-miR-654-5p	CLIP-seq
MIRT1493742	hsa-miR-762	CLIP-seq
MIRT2148789	hsa-miR-1225-3p	CLIP-seq
MIRT1493688	hsa-miR-15a	CLIP-seq
MIRT1493689	hsa-miR-15b	CLIP-seq
MIRT1493690	hsa-miR-16	CLIP-seq
MIRT2148790	hsa-miR-1915	CLIP-seq
MIRT1493692	hsa-miR-195	CLIP-seq
MIRT2148791	hsa-miR-2355-5p	CLIP-seq
MIRT1493701	hsa-miR-3179	CLIP-seq
MIRT1493703	hsa-miR-3201	CLIP-seq
MIRT1493704	hsa-miR-3202	CLIP-seq
MIRT2148792	hsa-miR-3929	CLIP-seq
MIRT1493711	hsa-miR-424	CLIP-seq
MIRT2148793	hsa-miR-4270	CLIP-seq
MIRT2148794	hsa-miR-4313	CLIP-seq
MIRT2148795	hsa-miR-4419b	CLIP-seq
MIRT2148796	hsa-miR-4441	CLIP-seq
MIRT2148797	hsa-miR-4478	CLIP-seq
MIRT1493722	hsa-miR-4651	CLIP-seq
MIRT2148798	hsa-miR-4726-3p	CLIP-seq
MIRT2148799	hsa-miR-4758-3p	CLIP-seq
MIRT1493730	hsa-miR-4791	CLIP-seq
MIRT1493732	hsa-miR-497	CLIP-seq
MIRT1493739	hsa-miR-608	CLIP-seq
MIRT1493676	hsa-miR-103a	CLIP-seq
MIRT1493677	hsa-miR-107	CLIP-seq
MIRT1493688	hsa-miR-15a	CLIP-seq
MIRT1493689	hsa-miR-15b	CLIP-seq
MIRT1493690	hsa-miR-16	CLIP-seq
MIRT1493692	hsa-miR-195	CLIP-seq
MIRT2369181	hsa-miR-3117-5p	CLIP-seq
MIRT1493697	hsa-miR-3143	CLIP-seq
MIRT2369182	hsa-miR-3150b-3p	CLIP-seq
MIRT1493703	hsa-miR-3201	CLIP-seq
MIRT2369183	hsa-miR-3619-3p	CLIP-seq
MIRT1493708	hsa-miR-3681	CLIP-seq
MIRT2369184	hsa-miR-3925-3p	CLIP-seq
MIRT1493710	hsa-miR-410	CLIP-seq
MIRT1493711	hsa-miR-424	CLIP-seq
MIRT2369185	hsa-miR-4258	CLIP-seq
MIRT2369186	hsa-miR-4433	CLIP-seq
MIRT2369187	hsa-miR-4459	CLIP-seq
MIRT1493719	hsa-miR-4520a-3p	CLIP-seq
MIRT1493720	hsa-miR-4520b-3p	CLIP-seq
MIRT1493721	hsa-miR-4524	CLIP-seq
MIRT2369188	hsa-miR-4661-5p	CLIP-seq
MIRT2369189	hsa-miR-4704-5p	CLIP-seq
MIRT1493726	hsa-miR-4711-5p	CLIP-seq
MIRT1493728	hsa-miR-4764-3p	CLIP-seq
MIRT2369190	hsa-miR-4768-3p	CLIP-seq
MIRT2369191	hsa-miR-4784	CLIP-seq
MIRT1493730	hsa-miR-4791	CLIP-seq
MIRT1493732	hsa-miR-497	CLIP-seq
MIRT1493733	hsa-miR-503	CLIP-seq
MIRT2369192	hsa-miR-515-5p	CLIP-seq
MIRT1493736	hsa-miR-543	CLIP-seq
MIRT1493737	hsa-miR-548aa	CLIP-seq
MIRT1493740	hsa-miR-646	CLIP-seq
MIRT2369193	hsa-miR-766	CLIP-seq
MIRT2148789	hsa-miR-1225-3p	CLIP-seq
MIRT2397022	hsa-miR-1247	CLIP-seq
MIRT2397023	hsa-miR-198	CLIP-seq
MIRT2397024	hsa-miR-4685-5p	CLIP-seq
MIRT2397025	hsa-miR-939	CLIP-seq
MIRT2148789	hsa-miR-1225-3p	CLIP-seq
MIRT2463531	hsa-miR-1289	CLIP-seq
MIRT2148790	hsa-miR-1915	CLIP-seq
MIRT2463532	hsa-miR-3690	CLIP-seq
MIRT2463533	hsa-miR-370	CLIP-seq
MIRT2463534	hsa-miR-4254	CLIP-seq
MIRT2463535	hsa-miR-4323	CLIP-seq
MIRT2463536	hsa-miR-4476	CLIP-seq
MIRT2463537	hsa-miR-4533	CLIP-seq
MIRT2463538	hsa-miR-4633-3p	CLIP-seq
MIRT2463539	hsa-miR-4668-5p	CLIP-seq
MIRT2463540	hsa-miR-4749-3p	CLIP-seq
MIRT2148799	hsa-miR-4758-3p	CLIP-seq
MIRT2463541	hsa-miR-4793-5p	CLIP-seq
MIRT2662772	hsa-miR-1266	CLIP-seq
MIRT2148793	hsa-miR-4270	CLIP-seq
MIRT2148796	hsa-miR-4441	CLIP-seq
MIRT2662773	hsa-miR-4518	CLIP-seq
MIRT2662772	hsa-miR-1266	CLIP-seq
MIRT2148793	hsa-miR-4270	CLIP-seq
MIRT2148796	hsa-miR-4441	CLIP-seq
MIRT2662773	hsa-miR-4518	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXQ1	Activation	20145154

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0001947	Process	Heart looping	IEA
GO:0002092	Process	Positive regulation of receptor internalization	IDA	16890161
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	20093360
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005515	Function	Protein binding	IPI	19072540, 20393562, 21944579, 22682250, 22726442, 22784633, 24768165, 26908622, 33961781, 36994853
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	26902720
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0007507	Process	Heart development	IDA	19736317
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0010387	Process	COP9 signalosome assembly	IEA
GO:0010387	Process	COP9 signalosome assembly	ISS
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	26687115
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0010977	Process	Negative regulation of neuron projection development	ISS
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0021527	Process	Spinal cord association neuron differentiation	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021846	Process	Cell proliferation in forebrain	IEA
GO:0021846	Process	Cell proliferation in forebrain	ISS
GO:0021874	Process	Wnt signaling pathway involved in forebrain neuroblast division	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030168	Process	Platelet activation	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030879	Process	Mammary gland development	IEA
GO:0030890	Process	Positive regulation of B cell proliferation	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0033278	Process	Cell proliferation in midbrain	IEA
GO:0033278	Process	Cell proliferation in midbrain	TAS	24431302
GO:0035567	Process	Non-canonical Wnt signaling pathway	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0036465	Process	Synaptic vesicle recycling	TAS	22988876
GO:0039706	Function	Co-receptor binding	IPI	20093360
GO:0042100	Process	B cell proliferation	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045165	Process	Cell fate commitment	IBA
GO:0045202	Component	Synapse	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045445	Process	Myoblast differentiation	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20723538
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048018	Function	Receptor ligand activity	IDA	19736317, 20723538, 28733458
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048103	Process	Somatic stem cell division	IEA
GO:0048337	Process	Positive regulation of mesodermal cell fate specification	IDA	20559569
GO:0048343	Process	Paraxial mesodermal cell fate commitment	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048643	Process	Positive regulation of skeletal muscle tissue development	IEA
GO:0048697	Process	Positive regulation of collateral sprouting in absence of injury	IEA
GO:0048843	Process	Negative regulation of axon extension involved in axon guidance	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050768	Process	Negative regulation of neurogenesis	ISS
GO:0050770	Process	Regulation of axonogenesis	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050807	Process	Regulation of synapse organization	IDA	18986540
GO:0050807	Process	Regulation of synapse organization	IMP	18986540
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	16890161, 18941195, 19101069, 19736317, 20137080, 20559569, 20723538, 23797875, 28733458
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	26902720
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	22988876
GO:0060923	Process	Cardiac muscle cell fate commitment	IDA	20559569
GO:0060923	Process	Cardiac muscle cell fate commitment	IEA
GO:0061184	Process	Positive regulation of dermatome development	IDA	10654605
GO:0062009	Process	Secondary palate development	IMP	18413325
GO:0070062	Component	Extracellular exosome	TAS
GO:0070507	Process	Regulation of microtubule cytoskeleton organization	IEA
GO:0070527	Process	Platelet aggregation	IEA
GO:0071300	Process	Cellular response to retinoic acid	ISS
GO:0090245	Process	Axis elongation involved in somitogenesis	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	20723538
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0090676	Process	Calcium ion transmembrane transport via low voltage-gated calcium channel	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IDA	18986540
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	18986540
GO:0099054	Process	Presynapse assembly	TAS	24449494
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IEA
GO:1904339	Process	Negative regulation of dopaminergic neuron differentiation	IEA
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	TAS	22988876
GO:1905539	Process	Regulation of postsynapse to nucleus signaling pathway	IEA
GO:1905606	Process	Regulation of presynapse assembly	IDA	19883499
GO:1905606	Process	Regulation of presynapse assembly	IMP	19883499
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	IDA	20093360
GO:2000049	Process	Positive regulation of cell-cell adhesion mediated by cadherin	IEA
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2000347	Process	Positive regulation of hepatocyte proliferation	IEA
GO:2000727	Process	Positive regulation of cardiac muscle cell differentiation	IDA	20559569
GO:2001141	Process	Regulation of RNA biosynthetic process	IEA

Other IDs

• MIM: 606359
• HGNC: 15983
• e!Ensembl: ENSG00000154342

Protein

• UniProt ID: P56704
• Protein name: Protein Wnt-3a
• Protein function: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:20093360, PubMed:21244856,
• PDB: 7DRT, 7URD, 7URE, 8TZR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00110	wnt	44 → 352	wnt family	Family

• Tissue specificity: TISSUE SPECIFICITY: Moderately expressed in placenta and at low levels in adult lung, spleen, and prostate. {ECO:0000269|PubMed:11414706}.
• Sequence:

  MAPLGYFLLLCSLKQALGSYPIWWSLAVGPQYSSLGSQPILCASIPGLVPKQLRFCRNYV
  EIMPSVAEGIKIGIQECQHQFRGRRWNCTTVHDSLAIFGPVLDKATRESAFVHAIASAGV
  AFAVTRSCAEGTAAICGCSSRHQGSPGKGWKWGGCSEDIEFGGMVSREFADARENRPDAR
  SAMNRHNNEAGRQAIASHMHLKCKCHGLSGSCEVKTCWWSQPDFRAIGDFLKDKYDSASE
  MVVEKHRESRGWVETLRPRYTYFKVPTERDLVYYEASPNFCEPNPETGSFGTRDRTCNVS
  SHGIDGCDLLCCGRGHNARAERRREKCRCVFHWCCYVSCQECTRVYDVHTCK

• Sequence length: 352

Pathways

KEGG:

mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

TCF dependent signaling in response to WNT
WNT ligand biogenesis and trafficking
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Regulation of FZD by ubiquitination
RNF mutants show enhanced WNT signaling and proliferation

Associated diseases

Evidence Score:

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

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAPHRAGM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC JUVENILE OSTEOPOROSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WNT3A-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17156404, 19035298		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27806326, 28900490		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	30637920		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26941395		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22426476		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	20179324, 25024173		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30548452		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	23954131		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31683769	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26708597	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30548452		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31178968		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29201214, 29483204		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	26297437, 30841855		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	26297437, 30841855	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30851243		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	LHGDN	18344425		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	25999350, 32413029	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24584697	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	29954850		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30579133, 31740580		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21113658, 23666756, 23861811, 34868337, 35508987	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34902334	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22761862, 26577850, 26602384, 27076768, 28902357, 34902334	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30851243		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18215320, 28900490, 30431139		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22610075, 23893409, 34781823	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34257574	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29199847, 29954850		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24549785, 37568083	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29659176		★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	20932509, 29356097		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20711340, 25499541, 26266404, 27852072		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20711340, 24564183, 27049830, 31147591		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21478268, 24324366, 24564183, 29135090, 30072583, 30569135, 31147591, 32893845, 36849492, 39519079	Associate	★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	23382209		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23893409, 30566575		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27455246		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27455246, 38139440	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26512113	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28123640, 28678406, 31587011		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29299199		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29135090, 29299199		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29135090	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35436882	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29299199		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	34483150	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29164582, 30594556		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29164582	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24124596		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29052243		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37210725	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	30841855, 30906632		★☆☆☆☆ Found in Text Mining only
Focal Dermal Hypoplasia	Focal Dermal Hypoplasia	BEFREE	25464842		★☆☆☆☆ Found in Text Mining only
Focal Dermal Hypoplasia	Focal dermal hypoplasia	Pubtator	25464842	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	34982425	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23337036, 23897632, 25301448, 29065410, 29948952		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33857857	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23337036, 23897632, 25301448, 29065410, 29948952		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23337036, 26708597, 29387236		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26708597, 34657400	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	36555553	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	27076768	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24817932		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	GENOMICS_ENGLAND_DG	24817932		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24817932	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29178342		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	31407397		★☆☆☆☆ Found in Text Mining only
Idiopathic juvenile osteoporosis	Osteoporosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18478089, 34522168	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	26997628	Inhibit	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33090383	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	29434290		★☆☆☆☆ Found in Text Mining only
Juvenile osteoporosis	Osteoporosis	ORPHANET_DG	22789636		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31528227		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19035298, 24086728	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31236761		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19035298	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19035298		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	30579133		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22110662, 25174704, 26577850, 28754618, 28902357, 30018041, 30145863, 30963603, 31737122		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	27076768	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18215320	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27076768	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	19035298		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	24041698		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30201862, 30579133, 31740580		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29164582, 30594556		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28901526		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28900490, 30431139		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	30579133		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28108510, 31262711		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28358374, 30142387		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30851243		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12011973, 25715123, 26369691, 26708597, 28108510, 28902357, 30018041, 30018042, 30906632, 31236761		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20711340, 25499541, 26266404, 27852072		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27766889		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18563180, 22895053, 23869245, 24114839	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	19144919		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22895053, 29454361		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28108510		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	37203400	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	18305214		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	18305214, 18344425		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	40650009	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	18021006	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26025663, 32397113	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30488562		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28059551, 30118173	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22110662, 23337036, 24564183, 26266404, 26577850, 26708597, 27157618, 28902357, 29079964, 30018041, 30018042, 30896857		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26517508, 29505958		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26517508, 29505958	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	23382209	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27310371		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25572698, 29218239		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	28242765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	22127703	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23748413	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	31871129, 34492499	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31017804		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32080087, 33629292, 33939331	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	29229438, 31017804		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23291185	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27983924		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32075661	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25715123, 31740580	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	31831777		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical periodontitis	Pubtator	31831777	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22876125, 28587752		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	19035298		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28108510, 31262711		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18632632, 18724388		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22098624, 32413029, 33947326	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	29659176		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23893409		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30896857		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30568936		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	23999248	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	23396968	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	22328118	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34058801	Stimulate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33572899	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30579133		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29435043		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20028760, 21393552	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31111621		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28358374, 30142387		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28358374, 32570120, 32608501, 33450435, 33954199	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34951409, 35442371	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25848952, 26573286, 27902969, 30098400, 31693779		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25848952, 36902090	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	30896984		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34257574	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29079964	Associate	★☆☆☆☆ Found in Text Mining only