WNT3 (Wnt family member 3)

Gene

• Entrez ID: 7473
• Gene name: Wnt family member 3
• Gene symbol: WNT3
• Synonyms (NCBI Gene): INT4, TETAMS
• Chromosome: 17
• Chromosome location: 17q21.31-q21.32
• 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
MIRT018503	hsa-miR-335-5p	Microarray	18185580
MIRT024672	hsa-miR-215-5p	Microarray	19074876
MIRT026683	hsa-miR-192-5p	Microarray	19074876
MIRT036062	hsa-miR-1301-3p	CLASH	23622248
MIRT696724	hsa-miR-1255b-2-3p	HITS-CLIP	23313552
MIRT696723	hsa-miR-5684	HITS-CLIP	23313552
MIRT696722	hsa-miR-3667-3p	HITS-CLIP	23313552
MIRT696721	hsa-miR-659-5p	HITS-CLIP	23313552
MIRT696720	hsa-miR-155-3p	HITS-CLIP	23313552
MIRT696719	hsa-miR-3685	HITS-CLIP	23313552
MIRT463929	hsa-miR-1321	PAR-CLIP	23592263
MIRT463928	hsa-miR-4739	PAR-CLIP	23592263
MIRT463927	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT463926	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT463925	hsa-miR-4487	PAR-CLIP	23592263
MIRT463924	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT463923	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT463922	hsa-miR-4419a	PAR-CLIP	23592263
MIRT463921	hsa-miR-4510	PAR-CLIP	23592263
MIRT463920	hsa-miR-6127	PAR-CLIP	23592263
MIRT463919	hsa-miR-6129	PAR-CLIP	23592263
MIRT463918	hsa-miR-6130	PAR-CLIP	23592263
MIRT463917	hsa-miR-6133	PAR-CLIP	23592263
MIRT463915	hsa-miR-3665	PAR-CLIP	23592263
MIRT463916	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT463914	hsa-miR-6077	PAR-CLIP	23592263
MIRT463913	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT463912	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT463911	hsa-miR-4710	PAR-CLIP	23592263
MIRT463910	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT735183	hsa-miR-206	Immunohistochemistry (IHC), qRT-PCR, In situ hybridization	32722078
MIRT696724	hsa-miR-1255b-2-3p	HITS-CLIP	23313552
MIRT696723	hsa-miR-5684	HITS-CLIP	23313552
MIRT696722	hsa-miR-3667-3p	HITS-CLIP	23313552
MIRT696721	hsa-miR-659-5p	HITS-CLIP	23313552
MIRT696720	hsa-miR-155-3p	HITS-CLIP	23313552
MIRT696719	hsa-miR-3685	HITS-CLIP	23313552
MIRT463929	hsa-miR-1321	PAR-CLIP	23592263
MIRT463928	hsa-miR-4739	PAR-CLIP	23592263
MIRT463927	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT463926	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT463925	hsa-miR-4487	PAR-CLIP	23592263
MIRT463924	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT463923	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT463922	hsa-miR-4419a	PAR-CLIP	23592263
MIRT463921	hsa-miR-4510	PAR-CLIP	23592263
MIRT463920	hsa-miR-6127	PAR-CLIP	23592263
MIRT463919	hsa-miR-6129	PAR-CLIP	23592263
MIRT463918	hsa-miR-6130	PAR-CLIP	23592263
MIRT463917	hsa-miR-6133	PAR-CLIP	23592263
MIRT463915	hsa-miR-3665	PAR-CLIP	23592263
MIRT463916	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT463914	hsa-miR-6077	PAR-CLIP	23592263
MIRT463913	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT463912	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT463911	hsa-miR-4710	PAR-CLIP	23592263
MIRT463910	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT756009	hsa-miR-3198	Luciferase reporter assay, Western blotting, qRT-PCR	38536597

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IMP	15588944
GO:0001707	Process	Mesoderm formation	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IPI	10557084, 18313787
GO:0005125	Function	Cytokine activity	IBA
GO:0005515	Function	Protein binding	IPI	18313787, 21314951, 26902720, 31036956
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	18313787
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007276	Process	Gamete generation	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	25640183
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0031012	Component	Extracellular matrix	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0045165	Process	Cell fate commitment	IBA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	20039315
GO:0048018	Function	Receptor ligand activity	IC	18044981
GO:0048018	Function	Receptor ligand activity	IDA	10557084, 28733458
GO:0048513	Process	Animal organ development	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048697	Process	Positive regulation of collateral sprouting in absence of injury	IEA
GO:0048731	Process	System development	IEA
GO:0048843	Process	Negative regulation of axon extension involved in axon guidance	IEA
GO:0050767	Process	Regulation of neurogenesis	IMP	25640183
GO:0060064	Process	Spemann organizer formation at the anterior end of the primitive streak	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	10557084, 15588944, 18044981, 25640183, 28733458
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	20039315
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	24115276
GO:0060173	Process	Limb development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060174	Process	Limb bud formation	IMP	14872406
GO:0060323	Process	Head morphogenesis	IEA
GO:0061180	Process	Mammary gland epithelium development	IEP	8168088
GO:0070062	Component	Extracellular exosome	TAS
GO:0071300	Process	Cellular response to retinoic acid	ISS
GO:0072089	Process	Stem cell proliferation	IMP	25640183
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	IMP	25640183
GO:1990909	Component	Wnt signalosome	IC	10557084
GO:1990909	Component	Wnt signalosome	NAS	24115276
GO:2000739	Process	Regulation of mesenchymal stem cell differentiation	IMP	20039315

Other IDs

• MIM: 165330
• HGNC: 12782
• e!Ensembl: ENSG00000108379

Protein

• UniProt ID: P56703
• Protein name: Proto-oncogene Wnt-3 (Proto-oncogene Int-4 homolog)
• 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:26902720). Required for nor
• PDB: 6AHY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00110	wnt	47 → 355	wnt family	Family

• Sequence:

  MEPHLLGLLLGLLLGGTRVLAGYPIWWSLALGQQYTSLGSQPLLCGSIPGLVPKQLRFCR
  NYIEIMPSVAEGVKLGIQECQHQFRGRRWNCTTIDDSLAIFGPVLDKATRESAFVHAIAS
  AGVAFAVTRSCAEGTSTICGCDSHHKGPPGEGWKWGGCSEDADFGVLVSREFADARENRP
  DARSAMNKHNNEAGRTTILDHMHLKCKCHGLSGSCEVKTCWWAQPDFRAIGDFLKDKYDS
  ASEMVVEKHRESRGWVETLRAKYSLFKPPTERDLVYYENSPNFCEPNPETGSFGTRDRTC
  NVTSHGIDGCDLLCCGRGHNTRTEKRKEKCHCIFHWCCYVSCQECIRIYDVHTCK

• Sequence length: 355

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

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
Bladder exstrophy-epispadias-cloacal extrophy complex	Likely pathogenic	rs786205887	RCV000172899	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetraamelia syndrome 1	Pathogenic	rs104894653	RCV000014823	★★★★☆ 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
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRA-AMELIA AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRAAMELIA MULTIPLE MALFORMATIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WNT3-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	26023187		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31504236, 36191742	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30924074	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	17466092		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	29227539	Associate	★☆☆☆☆ Found in Text Mining only
Atresia of vagina	Atresia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	37907504	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	BEFREE	18998137		★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder Exstrophy	BEFREE	24852367, 26105184		★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder exstrophy	Pubtator	34355505	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy and Epispadias Complex	Bladder Exstrophy And Epispadias Complex	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	29704505		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11604997, 30854682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23071104, 30651373	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17767013, 29565490	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18313787, 18577996, 36275697	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11604997, 29565490		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASDB_DG	20190752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	20190752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	35208504	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	30566516		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24793644, 27651098		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	20890934	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	26505415, 29356097		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	26505415	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	37286376	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22161723		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22161723, 31632267		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33331430, 33891491	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of adrenal gland	Adrenal gland agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30566516		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30566516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	30566516		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26512113	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31155960		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	9099960	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31851619	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	32392180	Associate	★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32181818, 34657400	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	15588944	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33463545	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	37676284	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	26111189	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	27687579		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	30994860		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36595475	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	17767013	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18313787, 21314951, 28586038		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16002921		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	GWASDB_DG	23583980		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29565490	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Lymphocytic, Intermediate	Lymphoma, Lymphocytic, Intermediate	CTD_human_DG	18787224		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	18787224		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	CTD_human_DG	18787224		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	25756049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11604997, 30854682		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11604997, 29565490		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30431120		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11604997		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12011973, 29565490, 30431120, 31632267		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22161723		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27766889		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	18787224, 23760751		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18563180		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25303718		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20405176		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18313787, 22070884, 22161723, 29125885, 31632267		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19815336		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22070884		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	29064078		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26505415	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	31155960	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	29125885		★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical syndrome	Pubtator	35191549	Associate	★☆☆☆☆ Found in Text Mining only
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	31521827		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	21738487, 21812969, 22451204, 24511991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	21812969, 22451204, 24511991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	21812969, 28586827, 31504236	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ 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
Pleurisy	Pleuritis	BEFREE	12729343		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	29510649	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	22961000		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30431120		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	11604997		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19055603, 30345642		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	22160516		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31504236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	31504236	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31851619		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11604997		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34275925	Stimulate	★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	29064078		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	17876529		★☆☆☆☆ Found in Text Mining only
Tetra-amelia autosomal recessive	Tetraamelia	BEFREE	14872406, 20709709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetra-amelia autosomal recessive	Tetraamelia	GENOMICS_ENGLAND_DG	14872406, 18837045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetra-amelia autosomal recessive	Tetraamelia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetra-amelia autosomal recessive	Tetraamelia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetraamelia multiple malformations	Tetraamelia syndrome	ORPHANET_DG	14872406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE	Tetraamelia syndrome	GENOMICS_ENGLAND_DG	14872406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetraamelia-multiple malformations syndrome	Tetraamelia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	29662193		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21152100	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30679159		★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only