WNT10B (Wnt family member 10B)

Gene

• Entrez ID: 7480
• Gene name: Wnt family member 10B
• Gene symbol: WNT10B
• Synonyms (NCBI Gene): SHFM6, STHAG8, WNT-12
• Chromosome: 12
• Chromosome location: 12q13.12
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918349	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, 3 prime UTR variant
rs763548858	->TGCT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs763991433	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs766021478	C>T	Pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant
rs776938956	TGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs779326570	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1163162816	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1592252556	T>G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018883	hsa-miR-335-5p	Microarray	18185580
MIRT027804	hsa-miR-98-5p	Microarray	19088304
MIRT053185	hsa-miR-148a-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22890324
MIRT463936	hsa-miR-376c-3p	PAR-CLIP	23592263
MIRT463935	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT463934	hsa-miR-17-3p	PAR-CLIP	23592263
MIRT463933	hsa-miR-4450	PAR-CLIP	23592263
MIRT463932	hsa-miR-6740-5p	PAR-CLIP	23592263
MIRT463931	hsa-miR-4260	PAR-CLIP	23592263
MIRT463930	hsa-miR-5572	PAR-CLIP	23592263
MIRT732479	hsa-miR-33b-5p	Immunoprecipitaion (IP), Luciferase reporter assay, Western blotting	32346990
MIRT732592	hsa-miR-7113-5p	ELISA, Immunoprecipitaion (IP), Microarray, Western blotting	33189141
MIRT463936	hsa-miR-376c-3p	PAR-CLIP	23592263
MIRT463935	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT463934	hsa-miR-17-3p	PAR-CLIP	23592263
MIRT463933	hsa-miR-4450	PAR-CLIP	23592263
MIRT463932	hsa-miR-6740-5p	PAR-CLIP	23592263
MIRT463931	hsa-miR-4260	PAR-CLIP	23592263
MIRT463930	hsa-miR-5572	PAR-CLIP	23592263
MIRT1493554	hsa-miR-2115	CLIP-seq
MIRT1493555	hsa-miR-4685-5p	CLIP-seq
MIRT2369167	hsa-miR-1252	CLIP-seq
MIRT2369168	hsa-miR-3074-5p	CLIP-seq
MIRT2369169	hsa-miR-3185	CLIP-seq
MIRT2369170	hsa-miR-3667-3p	CLIP-seq
MIRT2369171	hsa-miR-370	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0002062	Process	Chondrocyte differentiation	IEP	15135146
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005109	Function	Frizzled binding	IBA
GO:0005125	Function	Cytokine activity	IBA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	NAS	15135146
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	IEA
GO:0014835	Process	Myoblast differentiation involved in skeletal muscle regeneration	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030217	Process	T cell differentiation	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0032434	Process	Regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	17761539
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0045165	Process	Cell fate commitment	IBA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0045598	Process	Regulation of fat cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IDA	10937998
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045899	Process	Positive regulation of RNA polymerase II transcription preinitiation complex assembly	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048018	Function	Receptor ligand activity	IC	17761539
GO:0048513	Process	Animal organ development	IEA
GO:0048627	Process	Myoblast development	IEA
GO:0048641	Process	Regulation of skeletal muscle tissue development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050821	Process	Protein stabilization	IDA	10937998
GO:0050909	Process	Sensory perception of taste	IEA
GO:0051246	Process	Regulation of protein metabolic process	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051885	Process	Positive regulation of timing of anagen	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	17761539
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060346	Process	Bone trabecula formation	IEA
GO:0061196	Process	Fungiform papilla development	IEA
GO:0071300	Process	Cellular response to retinoic acid	ISS
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071374	Process	Cellular response to parathyroid hormone stimulus	IEA
GO:0071425	Process	Hematopoietic stem cell proliferation	IDA	9787155
GO:0071425	Process	Hematopoietic stem cell proliferation	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	15190075
GO:1902035	Process	Positive regulation of hematopoietic stem cell proliferation	IEA

Other IDs

• MIM: 601906
• HGNC: 12775
• e!Ensembl: ENSG00000169884

Protein

• UniProt ID: O00744
• Protein name: Protein Wnt-10b (Protein Wnt-12)
• Protein function: Member of the Wnt ligand gene family that encodes for secreted proteins, which activate the Wnt signaling cascade. Specifically activates canonical Wnt/beta-catenin signaling and thus triggers beta-catenin/LEF/TCF-mediated transcriptional progra
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00110	wnt	50 → 389	wnt family	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in most adult tissues. Highest levels were found in heart and skeletal muscle. Low levels are found in brain.
• Sequence:

  MLEEPRPRPPPSGLAGLLFLALCSRALSNEILGLKLPGEPPLTANTVCLTLSGLSKRQLG
  LCLRNPDVTASALQGLHIAVHECQHQLRDQRWNCSALEGGGRLPHHSAILKRGFRESAFS
  FSMLAAGVMHAVATACSLGKLVSCGCGWKGSGEQDRLRAKLLQLQALSRGKSFPHSLPSP
  GPGSSPSPGPQDTWEWGGCNHDMDFGEKFSRDFLDSREAPRDIQARMRIHNNRVGRQVVT
  ENLKRKCKCHGTSGSCQFKTCWRAAPEFRAVGAALRERLGRAIFIDTHNRNSGAFQPRLR
  PRRLSGELVYFEKSPDFCERDPTMGSPGTRGRACNKTSRLLDGCGSLCCGRGHNVLRQTR
  VERCHCRFHWCCYVLCDECKVTEWVNVCK

• Sequence length: 389

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
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

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
Split hand-foot malformation 6	Pathogenic; Likely pathogenic	rs2137615101, rs2137611223, rs2137612860, rs121918349, rs561483849, rs2137615131, rs763548858, rs763991433, rs1163162816, rs776938956, rs1231016571, rs1555177994, rs1565715468, rs1592252556	RCV001807920 RCV002264897 RCV002269797 RCV000008069 RCV003228717 RCV003447696 RCV000023161 RCV000625580 RCV000656339 RCV000735854 RCV000785183 RCV000785180 RCV000785181 RCV001027401	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tooth agenesis, selective, 8	Pathogenic	rs779326570, rs766021478	RCV000239578 RCV000239472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WNT10B-related disorder	Pathogenic	rs763991433	RCV004758043	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTRODACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT HAND-FOOT MALFORMATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-HAND-FOOT MALFORMATION 6	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-HAND/FOOT MALFORMATION 6	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GWAS catalog	★★☆☆☆ 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	17614820		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	23135473		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	25860385		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	27121450		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	27321946, 31914153	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31344532		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12239602, 27853307, 28394344, 28599424, 9121776		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	12437293		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23372744, 35413424	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	19893992, 25995040	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9121776		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19893992	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33804101	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	12239602, 17334647		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12239602, 17334647		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31181716		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31344532		★☆☆☆☆ Found in Text Mining only
Corneal endothelial dystrophy type 2	Corneal endothelial dystrophy	Pubtator	26370090	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16735027		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	16942611	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	16942611	Associate	★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	ORPHANET_DG	18515319, 20635353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectrodactyly	Ectrodactyly	Pubtator	30622331	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22890324, 23135473, 27358147, 30594556, 9099960		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22890324, 9099960	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12239602		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12239602		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30536325		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30536325		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32181818, 33173023	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	16441421	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	29046115		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	26068297		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	27321946, 29364501		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	ORPHANET_DG	27321946		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18478089	Stimulate	★☆☆☆☆ Found in Text Mining only
Isolated split hand-split foot malformation	Isolated Split Hand-Split Foot Malformation	Orphanet			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33497493	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27853307		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	26709120		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31727171		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12239602, 27853307, 28394344, 28599424, 9121776		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	12437293		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22890324, 23135473, 30594556		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12239602		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12239602, 28586066		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	27415467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31433503		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11713588, 28599424		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12239602, 23135473, 27853307, 9121776		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	12239602, 17334647		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	12437293		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12437293		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	12437293		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	12437293		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	14514922, 33373316	Associate	★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	BEFREE	29364501		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ 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
Neoplasms	Neoplasms	BEFREE	19056888, 19056892, 22890324, 28599424, 31433503, 9989829		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16477437, 20579865, 22189080, 23104151, 29427788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	37219669	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodactyly	Oligodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	27321946, 29364501		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	ORPHANET_DG	27321946		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29046115		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	18465804		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21321991		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12239602, 28586066		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33228780	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	31421290		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31433503		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	31433503		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	27415467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	31089877		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	31089877	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12972807		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16735027, 23546988		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	25995040		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	25995040	Stimulate	★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)	Split-Hand-Foot Malformation	GENOMICS_ENGLAND_DG	12072797, 24211389		★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)	Split-Hand-Foot Malformation	UNIPROT_DG	18515319		★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)	Split-Hand-Foot Malformation	CLINVAR_DG	25741868		★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)	Split-Hand-Foot Malformation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12239602		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19543744	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11713588, 28599424		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	BEFREE	29364501		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	33650656	Associate	★☆☆☆☆ Found in Text Mining only
TOOTH AGENESIS, SELECTIVE, 8	Tooth Agenesis	UNIPROT_DG	27321946		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TOOTH AGENESIS, SELECTIVE, 8	Tooth Agenesis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TOOTH AGENESIS, SELECTIVE, 8	Tooth Agenesis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23307470, 29281678, 30563890		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29281678	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26370090	Associate	★☆☆☆☆ Found in Text Mining only