Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64321
Gene name	SRY-box transcription factor 17
Gene symbol	SOX17
Synonyms (NCBI Gene)	PPH7VUR3
Chromosome	8
Chromosome location	8q11.23
Summary	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after for

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607082	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1586329828	CTGGGCCCCGAGGGCGGCCGCG>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054849	hsa-miR-335-5p	Luciferase reporter assayqRT-PCRWestern blot	24449834
MIRT723987	hsa-miR-200a-5p	HITS-CLIP	19536157
MIRT723986	hsa-miR-200b-5p	HITS-CLIP	19536157
MIRT723985	hsa-miR-134-5p	HITS-CLIP	19536157
MIRT723984	hsa-miR-3118	HITS-CLIP	19536157
MIRT723983	hsa-miR-3164	HITS-CLIP	19536157
MIRT723982	hsa-miR-6820-3p	HITS-CLIP	19536157
MIRT723981	hsa-miR-6808-3p	HITS-CLIP	19536157
MIRT723980	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT723979	hsa-miR-2113	HITS-CLIP	19536157
MIRT723978	hsa-miR-5010-3p	HITS-CLIP	19536157
MIRT653226	hsa-miR-5695	HITS-CLIP	23824327
MIRT653225	hsa-miR-3135b	HITS-CLIP	23824327
MIRT653224	hsa-miR-1287-5p	HITS-CLIP	23824327
MIRT653223	hsa-miR-6828-5p	HITS-CLIP	23824327
MIRT653222	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT653221	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653220	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653219	hsa-miR-6079	HITS-CLIP	23824327
MIRT653218	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT653217	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT723987	hsa-miR-200a-5p	Luciferase reporter assay	26277621
MIRT732462	hsa-miR-1228-3p	Luciferase reporter assayqRT-PCRWestern blotting	34006305
MIRT736950	hsa-miR-21-5p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCR	32236579
MIRT732462	hsa-miR-1228-3p	Luciferase reporter assayWestern blottingqRT-PCR	34006305
MIRT723987	hsa-miR-200a-5p	HITS-CLIP	19536157
MIRT723986	hsa-miR-200b-5p	HITS-CLIP	19536157
MIRT723985	hsa-miR-134-5p	HITS-CLIP	19536157
MIRT723984	hsa-miR-3118	HITS-CLIP	19536157
MIRT723983	hsa-miR-3164	HITS-CLIP	19536157
MIRT723982	hsa-miR-6820-3p	HITS-CLIP	19536157
MIRT723981	hsa-miR-6808-3p	HITS-CLIP	19536157
MIRT723980	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT723979	hsa-miR-2113	HITS-CLIP	19536157
MIRT723978	hsa-miR-5010-3p	HITS-CLIP	19536157
MIRT653226	hsa-miR-5695	HITS-CLIP	23824327
MIRT653225	hsa-miR-3135b	HITS-CLIP	23824327
MIRT653224	hsa-miR-1287-5p	HITS-CLIP	23824327
MIRT653223	hsa-miR-6828-5p	HITS-CLIP	23824327
MIRT653222	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT653221	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653220	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653219	hsa-miR-6079	HITS-CLIP	23824327
MIRT653218	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT653217	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT1380394	hsa-miR-1255a	CLIP-seq
MIRT1380395	hsa-miR-1255b	CLIP-seq
MIRT1380396	hsa-miR-151-5p	CLIP-seq
MIRT1380397	hsa-miR-151b	CLIP-seq
MIRT1380398	hsa-miR-3131	CLIP-seq
MIRT1380399	hsa-miR-3153	CLIP-seq
MIRT1380400	hsa-miR-323-3p	CLIP-seq
MIRT1380401	hsa-miR-3605-5p	CLIP-seq
MIRT1380402	hsa-miR-3611	CLIP-seq
MIRT1380403	hsa-miR-4261	CLIP-seq
MIRT1380404	hsa-miR-4668-5p	CLIP-seq
MIRT1380405	hsa-miR-4699-5p	CLIP-seq
MIRT1380406	hsa-miR-4761-5p	CLIP-seq
MIRT1380407	hsa-miR-539	CLIP-seq
MIRT1380408	hsa-miR-548ag	CLIP-seq
MIRT1380409	hsa-miR-548ai	CLIP-seq
MIRT1380410	hsa-miR-548c-3p	CLIP-seq
MIRT1380411	hsa-miR-611	CLIP-seq
MIRT2113892	hsa-miR-1302	CLIP-seq
MIRT2113893	hsa-miR-181a	CLIP-seq
MIRT2113894	hsa-miR-181b	CLIP-seq
MIRT2113895	hsa-miR-181c	CLIP-seq
MIRT2113896	hsa-miR-181d	CLIP-seq
MIRT2113897	hsa-miR-3122	CLIP-seq
MIRT2113898	hsa-miR-330-3p	CLIP-seq
MIRT2113899	hsa-miR-3913-5p	CLIP-seq
MIRT2113900	hsa-miR-4262	CLIP-seq
MIRT2113901	hsa-miR-4298	CLIP-seq
MIRT2113902	hsa-miR-642b	CLIP-seq
MIRT2336855	hsa-miR-3065-5p	CLIP-seq
MIRT2336856	hsa-miR-3120-3p	CLIP-seq
MIRT2394982	hsa-miR-141	CLIP-seq
MIRT2394983	hsa-miR-200a	CLIP-seq
MIRT2630384	hsa-miR-3180-5p	CLIP-seq
MIRT2630385	hsa-miR-520a-5p	CLIP-seq
MIRT2630386	hsa-miR-525-5p	CLIP-seq

108

Show/Hide all (108)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0001570	Process	Vasculogenesis	IBA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0001656	Process	Metanephros development	IMP	20960469
GO:0001706	Process	Endoderm formation	IBA
GO:0001706	Process	Endoderm formation	IDA	18682240
GO:0001714	Process	Endodermal cell fate specification	IEA
GO:0001714	Process	Endodermal cell fate specification	ISS
GO:0001828	Process	Inner cell mass cellular morphogenesis	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0003142	Process	Cardiogenic plate morphogenesis	IEA
GO:0003142	Process	Cardiogenic plate morphogenesis	ISS
GO:0003143	Process	Embryonic heart tube morphogenesis	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	17875931
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17875931, 18682240
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	19736317
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007493	Process	Endodermal cell fate determination	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	17875931
GO:0009888	Process	Tissue development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0021903	Process	Rostrocaudal neural tube patterning	IEA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030308	Process	Negative regulation of cell growth	IMP	18413743
GO:0031648	Process	Protein destabilization	IMP	17875931
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0035987	Process	Endodermal cell differentiation	IEA
GO:0042074	Process	Cell migration involved in gastrulation	IEA
GO:0043279	Process	Response to alkaloid	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	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	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22292085
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:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISS
GO:0048568	Process	Embryonic organ development	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	ISS
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048866	Process	Stem cell fate specification	IEA
GO:0050821	Process	Protein stabilization	IMP	17875931
GO:0060214	Process	Endocardium formation	IEA
GO:0060214	Process	Endocardium formation	ISS
GO:0060913	Process	Cardiac cell fate determination	IMP	19736317
GO:0060914	Process	Heart formation	TAS	19736317
GO:0060956	Process	Endocardial cell differentiation	IEA
GO:0060956	Process	Endocardial cell differentiation	ISS
GO:0061009	Process	Common bile duct development	IEA
GO:0061010	Process	Gallbladder development	IEA
GO:0061031	Process	Endodermal digestive tract morphogenesis	IEA
GO:0061031	Process	Endodermal digestive tract morphogenesis	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	17875931, 19736317
GO:0072091	Process	Regulation of stem cell proliferation	IEA
GO:0072189	Process	Ureter development	IMP	20960469
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	18413743, 20960469
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	ISS
GO:1903226	Process	Positive regulation of endodermal cell differentiation	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000035	Process	Regulation of stem cell division	IEA
GO:2000043	Process	Regulation of cardiac cell fate specification	IEA
GO:2000043	Process	Regulation of cardiac cell fate specification	ISS
GO:2000738	Process	Positive regulation of stem cell differentiation	IEA

MIM	HGNC	e!Ensembl
610928	18122	ENSG00000164736

Q9H6I2

Protein name

Transcription factor SOX-17

Protein function

Acts as a transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated C

PDB

2YUL , 4A3N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00505	HMG_box	68 → 136	HMG (high mobility group) box	Domain
PF12067	Sox17_18_mid	203 → 253	Sox 17/18 central domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult heart, lung, spleen, testis, ovary, placenta, fetal lung, and kidney. In normal gastrointestinal tract, it is preferentially expressed in esophagus, stomach and small intestine than in colon and rectum. {ECO:0000269|

Sequence

MSSPDAGYASDDQSQTQSALPAVMAGLGPCPWAESLSPIGDMKVKGEAPANSGAPAGAAG
RAKGESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAELSKMLGKSWKALTLAEKRPFVEE
AERLRVQHMQDHPNYKYRPRRRKQVKRLKRVEGGFLHGLAEPQAAALGPEGGRVAMDGLG
LQFPEQGFPAGPPLLPPHMGGHYRDCQSLGAPPLDGYPLPTPDTSPLDGVDPDPAFFAAP
MPGDCPAAGTYSYAQVSDYAGPPEPPAGPMHPRLGPEPAGPSIPGLLAPPSALHVYYGAM
GSPGAGGGRGFQMQPQHQHQHQHQHHPPGPGQPSPPPEALPCRDGTDPSQPAELLGEVDR
TEFEQYLHFVCKPEMGLPYQGHDSGVNLPDSHGAISSVVSDASSAVYYCNYPDV

Sequence length

414

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway		Deactivation of the beta-catenin transactivating complex

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pulmonary arterial hypertension	Pathogenic	rs2129277991	RCV002077365	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sox17- related disorders	Likely pathogenic	rs2536310605	RCV003335935	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vesicoureteral reflux 3	Likely pathogenic	rs1221216215	RCV003484559	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Chronic kidney disease	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PRIMARY PULMONARY HYPERTENSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL VESICOURETERAL REFLUX	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERITABLE PULMONARY ARTERIAL HYPERTENSION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ANEURYSM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATENT DUCTUS ARTERIOSUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOX17-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOX17-related pulmonary arterial hypertension	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICO-URETERAL REFLUX	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesicoureteral reflux	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (131)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	31444787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	31543512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25432628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	18413743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	25674225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28237397, 28381471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	25674225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31444787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30928652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	19549530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19301122, 20040597, 23136251, 25727515, 25789956, 25971583, 25994056, 27229858, 27510924, 29069768, 30272253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20040597, 25789956, 27449045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25971583, 27188720	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	22348788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	28566479	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18413743, 22921431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25106407	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	36788073	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20716954, 25106407	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35465267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22846201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	36788073, 36853778, 37195085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36788073	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31444787	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32644288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	31543512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25953442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37370144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29970906, 30509219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29970906, 30509219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	25674225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28237397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19549530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	27245242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18413743, 20716954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18413743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18413743		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18413743		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18413743	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20716954, 27245242, 34337040	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	25053769, 26463399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28237397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	30029678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25994056, 27738313, 31419525, 31543512, 31632077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25994056, 27738313, 30935961, 32236579, 36788073, 36853778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22921431, 24407731, 30777052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	18413743	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22921431, 24407731, 30777052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22921431, 27513557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22499122, 24936140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	27138764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	30044643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial vesicoureteral reflux	Vesicoureteral Reflux	ORPHANET_DG	20960469		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial vesicoureteral reflux	Vesicoureteral Reflux	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor	Tumor	BEFREE	31583686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23241958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23241958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26337424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	30029678, 35618278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31148336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	36788073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	21154739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37659973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	30356064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29650961, 30029678, 30527956, 31406341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	19549530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	20364137, 22961961, 30994044, 31250579, 37659973	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	22961961, 25596186, 29191544, 31055715		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20795789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24955525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	22348788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20716954, 25106407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22846201, 29270240, 32138766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25789956, 25971583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	29444818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19301122, 20040597, 23136251, 25727515, 25789956, 25971583, 25994056, 27229858, 27510924, 29069768, 30272253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	25994056, 27738313, 31419525, 31632077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22921431, 24407731, 30777052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22846201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25953442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21514720, 23403728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23044318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11786926, 20040597, 21514720, 25727515, 25789956, 25994056, 28237397, 29970906, 30914279, 31419525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29970906, 30509219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19549530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19301122, 23136251, 27510924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	Pubtator	30994044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17875931, 19301122, 19549530, 20716954, 23241958, 23403728, 25287138, 25789956, 25971583, 26741346, 27229858, 27738313, 28237397, 28614211, 28978154, 29970906, 30272253, 30599110 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18413743, 26741346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	23474492, 25674225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	25674225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29806631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39529086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25953442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36788073, 36853778, 37643784, 39529086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	BEFREE	28148542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	22136171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	23044318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31682594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	29650961, 30029678, 33952808, 35346192, 35618278, 36344664	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30527956		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinoblastoma	Retinoblastoma	BEFREE	27229858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	39491746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	17943972, 18348160, 27441500, 31583686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	35269507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31405379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22499122, 24407731, 24936140, 30599110, 30777052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31405379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	25994056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21514720, 23403728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	19549530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22161215, 33928818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	25596186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	33224314, 37508506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	BEFREE	29680275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27022736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23044318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23044318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37391754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32420368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24647315, 36803573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	35618278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	20960469		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesicoureteral Reflux 1	Vesicoureteral Reflux	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
VESICOURETERAL REFLUX 3	Vesicoureteral Reflux	UNIPROT_DG	20960469		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VESICOURETERAL REFLUX 3	Vesicoureteral Reflux	GENOMICS_ENGLAND_DG	20960469		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VESICOURETERAL REFLUX 3	Vesicoureteral Reflux	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	25674225		★★★★★ ★☆☆☆☆ Found in Text Mining only

SOX17 (SRY-box transcription factor 17)