SPINT2 (serine peptidase inhibitor, Kunitz type 2)

Gene

• Entrez ID: 10653
• Gene name: Serine peptidase inhibitor, Kunitz type 2
• Gene symbol: SPINT2
• Synonyms (NCBI Gene): DIAR3, HAI-2, HAI2, Kop, PB
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112576957	T>A,C	Pathogenic	Splice donor variant
rs121908403	A>G	Pathogenic	Coding sequence variant, missense variant
rs121908404	A>T	Pathogenic	Initiator codon variant, missense variant
rs606231154	G>A	Pathogenic	Splice acceptor variant
rs606231155	T>C	Pathogenic	Splice donor variant
rs606231284	G>A	Pathogenic	Coding sequence variant, missense variant
rs780880496	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT574111	hsa-miR-583	PAR-CLIP	20371350
MIRT574110	hsa-miR-4677-3p	PAR-CLIP	20371350
MIRT574109	hsa-miR-4679	PAR-CLIP	20371350
MIRT574108	hsa-miR-3182	PAR-CLIP	20371350
MIRT574107	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT574108	hsa-miR-3182	PAR-CLIP	27292025
MIRT574110	hsa-miR-4677-3p	PAR-CLIP	27292025
MIRT574109	hsa-miR-4679	PAR-CLIP	27292025
MIRT574107	hsa-miR-539-5p	PAR-CLIP	27292025
MIRT574111	hsa-miR-583	PAR-CLIP	27292025
MIRT574111	hsa-miR-583	PAR-CLIP	20371350
MIRT574110	hsa-miR-4677-3p	PAR-CLIP	20371350
MIRT574109	hsa-miR-4679	PAR-CLIP	20371350
MIRT574108	hsa-miR-3182	PAR-CLIP	20371350
MIRT574107	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT1384639	hsa-miR-1237	CLIP-seq
MIRT1384640	hsa-miR-1248	CLIP-seq
MIRT1384641	hsa-miR-1273	CLIP-seq
MIRT1384642	hsa-miR-1298	CLIP-seq
MIRT1384643	hsa-miR-1910	CLIP-seq
MIRT1384644	hsa-miR-2355-5p	CLIP-seq
MIRT1384645	hsa-miR-3124-3p	CLIP-seq
MIRT1384646	hsa-miR-342-3p	CLIP-seq
MIRT1384647	hsa-miR-3613-3p	CLIP-seq
MIRT1384648	hsa-miR-3691-5p	CLIP-seq
MIRT1384649	hsa-miR-377	CLIP-seq
MIRT1384650	hsa-miR-3909	CLIP-seq
MIRT1384651	hsa-miR-3919	CLIP-seq
MIRT1384652	hsa-miR-3942-3p	CLIP-seq
MIRT1384653	hsa-miR-4287	CLIP-seq
MIRT1384654	hsa-miR-4320	CLIP-seq
MIRT1384655	hsa-miR-4418	CLIP-seq
MIRT1384656	hsa-miR-4474-5p	CLIP-seq
MIRT1384657	hsa-miR-4477a	CLIP-seq
MIRT1384658	hsa-miR-4494	CLIP-seq
MIRT1384659	hsa-miR-4508	CLIP-seq
MIRT1384660	hsa-miR-4685-3p	CLIP-seq
MIRT1384661	hsa-miR-4690-3p	CLIP-seq
MIRT1384662	hsa-miR-4752	CLIP-seq
MIRT1384663	hsa-miR-4762-5p	CLIP-seq
MIRT1384664	hsa-miR-4789-3p	CLIP-seq
MIRT1384665	hsa-miR-499-3p	CLIP-seq
MIRT1384666	hsa-miR-499a-3p	CLIP-seq
MIRT1384667	hsa-miR-509-3-5p	CLIP-seq
MIRT1384668	hsa-miR-509-5p	CLIP-seq
MIRT1384669	hsa-miR-539	CLIP-seq
MIRT1384670	hsa-miR-581	CLIP-seq
MIRT1384671	hsa-miR-664	CLIP-seq
MIRT1384672	hsa-miR-888	CLIP-seq
MIRT1384673	hsa-miR-1205	CLIP-seq
MIRT1384674	hsa-miR-151-5p	CLIP-seq
MIRT1384675	hsa-miR-151b	CLIP-seq
MIRT1384676	hsa-miR-1972	CLIP-seq
MIRT1384677	hsa-miR-3125	CLIP-seq
MIRT1384678	hsa-miR-3167	CLIP-seq
MIRT1384679	hsa-miR-3916	CLIP-seq
MIRT1384655	hsa-miR-4418	CLIP-seq
MIRT1384658	hsa-miR-4494	CLIP-seq
MIRT1384659	hsa-miR-4508	CLIP-seq
MIRT1384680	hsa-miR-4737	CLIP-seq
MIRT1384667	hsa-miR-509-3-5p	CLIP-seq
MIRT1384668	hsa-miR-509-5p	CLIP-seq
MIRT1384681	hsa-miR-765	CLIP-seq
MIRT1384682	hsa-miR-876-5p	CLIP-seq
MIRT1384683	hsa-miR-877	CLIP-seq
MIRT1384639	hsa-miR-1237	CLIP-seq
MIRT1384640	hsa-miR-1248	CLIP-seq
MIRT2115140	hsa-miR-186	CLIP-seq
MIRT1384643	hsa-miR-1910	CLIP-seq
MIRT2115141	hsa-miR-203	CLIP-seq
MIRT1384644	hsa-miR-2355-5p	CLIP-seq
MIRT2115142	hsa-miR-3117-3p	CLIP-seq
MIRT2115143	hsa-miR-3133	CLIP-seq
MIRT2115144	hsa-miR-3169	CLIP-seq
MIRT1384646	hsa-miR-342-3p	CLIP-seq
MIRT1384649	hsa-miR-377	CLIP-seq
MIRT1384651	hsa-miR-3919	CLIP-seq
MIRT1384652	hsa-miR-3942-3p	CLIP-seq
MIRT1384653	hsa-miR-4287	CLIP-seq
MIRT1384656	hsa-miR-4474-5p	CLIP-seq
MIRT1384660	hsa-miR-4685-3p	CLIP-seq
MIRT1384661	hsa-miR-4690-3p	CLIP-seq
MIRT2115145	hsa-miR-4759	CLIP-seq
MIRT1384664	hsa-miR-4789-3p	CLIP-seq
MIRT1384665	hsa-miR-499-3p	CLIP-seq
MIRT1384666	hsa-miR-499a-3p	CLIP-seq
MIRT1384669	hsa-miR-539	CLIP-seq
MIRT2115146	hsa-miR-548ae	CLIP-seq
MIRT2115147	hsa-miR-548aj	CLIP-seq
MIRT2115148	hsa-miR-548am	CLIP-seq
MIRT2115149	hsa-miR-548x	CLIP-seq
MIRT2115150	hsa-miR-642a	CLIP-seq
MIRT1384673	hsa-miR-1205	CLIP-seq
MIRT1384674	hsa-miR-151-5p	CLIP-seq
MIRT1384675	hsa-miR-151b	CLIP-seq
MIRT1384677	hsa-miR-3125	CLIP-seq
MIRT1384678	hsa-miR-3167	CLIP-seq
MIRT1384679	hsa-miR-3916	CLIP-seq
MIRT1384655	hsa-miR-4418	CLIP-seq
MIRT1384658	hsa-miR-4494	CLIP-seq
MIRT1384659	hsa-miR-4508	CLIP-seq
MIRT1384680	hsa-miR-4737	CLIP-seq
MIRT1384667	hsa-miR-509-3-5p	CLIP-seq
MIRT1384668	hsa-miR-509-5p	CLIP-seq
MIRT1384681	hsa-miR-765	CLIP-seq
MIRT1384682	hsa-miR-876-5p	CLIP-seq
MIRT1384683	hsa-miR-877	CLIP-seq
MIRT2115140	hsa-miR-186	CLIP-seq
MIRT2115141	hsa-miR-203	CLIP-seq
MIRT2115142	hsa-miR-3117-3p	CLIP-seq
MIRT2115143	hsa-miR-3133	CLIP-seq
MIRT2115144	hsa-miR-3169	CLIP-seq
MIRT2115145	hsa-miR-4759	CLIP-seq
MIRT1384669	hsa-miR-539	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	9115294
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	19185281, 25301953
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	9434156
GO:0005576	Component	Extracellular region	TAS	9346890
GO:0005737	Component	Cytoplasm	IDA	11606055
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9434156
GO:0022408	Process	Negative regulation of cell-cell adhesion	IDA	19592578
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0060672	Process	Epithelial cell morphogenesis involved in placental branching	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:2000146	Process	Negative regulation of cell motility	IDA	19592578
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IEA

Other IDs

• MIM: 605124
• HGNC: 11247
• e!Ensembl: ENSG00000167642

Protein

• UniProt ID: O43291
• Protein name: Kunitz-type protease inhibitor 2 (Hepatocyte growth factor activator inhibitor type 2) (HAI-2) (Placental bikunin)
• Protein function: Inhibitor of HGFAC (PubMed:9346890). Also inhibits plasmin, and plasma and tissue kallikrein (PubMed:9115294). Inhibits serine protease activity of TMPRSS13 (PubMed:20977675, PubMed:28710277). Inhibits serine protease activity of ST14/matriptase
• PDB: 4U32
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00014	Kunitz_BPTI	37 → 89	Kunitz/Bovine pancreatic trypsin inhibitor domain	Domain
  PF00014	Kunitz_BPTI	132 → 184	Kunitz/Bovine pancreatic trypsin inhibitor domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in placenta, kidney, pancreas, prostate, testis, thymus, and trachea. {ECO:0000269|PubMed:9346890}.
• Sequence:

  MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHDFCLVSKVVGRCRASMPRWWYNVTD
  GSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSE
  DHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACM
  LRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTVWSSGD
  DKEQLVKNTYVL

• Sequence length: 252

Pathways

Reactome:

MET Receptor Activation
Signaling by MST1

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
Congenital secretory sodium diarrhea 3	Likely pathogenic; Pathogenic	rs2146278813, rs606231284, rs1348196809, rs606231154, rs121908403, rs606231155, rs112576957, rs121908404, rs1224874674, rs1968606914, rs780880496	RCV001779963 RCV002468935 RCV004999776 RCV002468917 RCV002468918 RCV002468919 RCV002468920 RCV002468921 RCV003225652 RCV003985211 RCV002468944	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs2146278822	RCV005912618	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SECRETORY DIARRHEA, SODIUM TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital sodium diarrhea	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PREGNANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINT2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrania	Acrania	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11948124		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	19047176, 22447520		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	11433397		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11433397		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14734471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	25786220, 26171609, 34381422	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10695988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33237575	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30765871		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17309599, 18195710	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19148468		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18689863, 29843210		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18689863, 29843210		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	19047176, 22447520		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	BEFREE	28716867		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal atresia syndrome	Pubtator	28716867	Associate	★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	24452533	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	29575628	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	29575628	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	GENOMICS_ENGLAND_DG	24142340		★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	BEFREE	29575628		★☆☆☆☆ Found in Text Mining only
Coloboma of optic nerve	Coloboma	Pubtator	29575628	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	BEFREE	29575628		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	34181691	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	38271183	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10695988		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35352485	Associate	★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	29575628		★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	GENOMICS_ENGLAND_DG	17786112, 24142340		★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	BEFREE	19185281, 24142340, 24722141, 28716867, 29575628		★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	UNIPROT_DG	19185281		★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	ORPHANET_DG	19185281		★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14713848, 15930277, 18195710, 29890660		★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34181691	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	38271183	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 3 Secretory Sodium Congenital	Congenital secretory diarrhea	Pubtator	19185281, 26358773, 28716867, 29499739, 29575628, 34089062, 38271183	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	29575628	Associate	★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★☆☆☆☆ Found in Text Mining only
Dysphoric mood	Mood Disorder	BEFREE	29107424		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20715109		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	20664929		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	21898507		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	17668415		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	BEFREE	29575628		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11433397, 26233891, 29987920, 30838489		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26233891	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11433397, 26233891, 29987920, 30838489		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11433397, 14558597, 26233891, 30838489, 31701492		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26233891	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	BEFREE	25424868		★☆☆☆☆ Found in Text Mining only
Hexadactyly	Hexadactyly	GENOMICS_ENGLAND_DG	17786112		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34299087	Associate	★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Intestinal epithelial dysplasia	Intestinal Epithelial Dysplasia	BEFREE	24142340, 26684320, 29575628, 29617460, 30445423		★☆☆☆☆ Found in Text Mining only
Intestinal epithelial dysplasia	Intestinal Epithelial Dysplasia	GENOMICS_ENGLAND_DG	24142340		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	24142340		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	20664929		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	20664929		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30484958	Associate	★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	20664929		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14695180, 18358501, 19107935, 19384946, 20883676, 26030814		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	14695180, 18358501		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18689863	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14734471		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	20715109		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30765871		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19148468		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10695988		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	19767754		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24121274, 26442953, 29118397, 31337649		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10762618, 20063316		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14558597, 16557597, 20063316, 25910030, 29431273, 29499401, 29843210, 29987920, 30484958, 30838489		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18689863, 29843210		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	14734471		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14734471, 17255277		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	19047176, 22447520		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	19047176		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23020131, 25910030		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23020131	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	37400835	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30484958		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24410667	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	30484958	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14695180, 14734471, 15930277, 19047176, 19107935, 19148468, 20063316, 20664929, 22447520, 24269829, 25910030, 26030814, 26233891, 26442953, 28371047, 29499401, 30838489, 31701492, 31737572		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	24722141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	BEFREE	28695418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31164631		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	18689863	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12569552		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19148468		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29499737	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10695988		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	17786112		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	19767754, 29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	24121274, 26442953, 29118397, 31337649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26442953	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31337649	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14713848, 15930277, 18195710, 29890660		★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24269829		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10762618, 20063316		★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	25910030		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32887258	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric syndrome	Pubtator	28716867	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18689863, 29843210	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	20664929		★☆☆☆☆ Found in Text Mining only