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	8720
Gene name	Membrane bound transcription factor peptidase, site 1
Gene symbol	MBTPS1
Synonyms (NCBI Gene)	CAOPPCSK8S1PSEDKFSKI-1
Chromosome	16
Chromosome location	16q23.3-q24.1
Summary	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein under

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs771258750	->A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1226321681	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant

166

Show/Hide all (166)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051782	hsa-let-7c-5p	CLASH	23622248
MIRT041290	hsa-miR-193b-3p	CLASH	23622248
MIRT039121	hsa-miR-769-3p	CLASH	23622248
MIRT1136174	hsa-miR-106a	CLIP-seq
MIRT1136175	hsa-miR-106b	CLIP-seq
MIRT1136176	hsa-miR-1264	CLIP-seq
MIRT1136177	hsa-miR-1324	CLIP-seq
MIRT1136178	hsa-miR-17	CLIP-seq
MIRT1136179	hsa-miR-20a	CLIP-seq
MIRT1136180	hsa-miR-20b	CLIP-seq
MIRT1136181	hsa-miR-2115	CLIP-seq
MIRT1136182	hsa-miR-216a	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT1136185	hsa-miR-3667-5p	CLIP-seq
MIRT1136186	hsa-miR-3671	CLIP-seq
MIRT1136187	hsa-miR-374c	CLIP-seq
MIRT1136188	hsa-miR-3977	CLIP-seq
MIRT1136189	hsa-miR-4264	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT1136191	hsa-miR-4762-5p	CLIP-seq
MIRT1136192	hsa-miR-4796-3p	CLIP-seq
MIRT1136193	hsa-miR-4797-3p	CLIP-seq
MIRT1136194	hsa-miR-483-5p	CLIP-seq
MIRT1136195	hsa-miR-516a-3p	CLIP-seq
MIRT1136196	hsa-miR-519d	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT1136198	hsa-miR-607	CLIP-seq
MIRT1136199	hsa-miR-616	CLIP-seq
MIRT1136200	hsa-miR-622	CLIP-seq
MIRT1136201	hsa-miR-655	CLIP-seq
MIRT1136202	hsa-miR-93	CLIP-seq
MIRT2038727	hsa-miR-1913	CLIP-seq
MIRT2038728	hsa-miR-324-3p	CLIP-seq
MIRT2038729	hsa-miR-331-3p	CLIP-seq
MIRT2038730	hsa-miR-3613-3p	CLIP-seq
MIRT2038731	hsa-miR-3616-3p	CLIP-seq
MIRT2038732	hsa-miR-3667-3p	CLIP-seq
MIRT2038733	hsa-miR-3668	CLIP-seq
MIRT2038734	hsa-miR-3978	CLIP-seq
MIRT2038735	hsa-miR-4436b-3p	CLIP-seq
MIRT2038736	hsa-miR-4436b-5p	CLIP-seq
MIRT2038737	hsa-miR-4459	CLIP-seq
MIRT2038738	hsa-miR-4641	CLIP-seq
MIRT2038739	hsa-miR-4773	CLIP-seq
MIRT2038740	hsa-miR-4779	CLIP-seq
MIRT2038741	hsa-miR-513a-5p	CLIP-seq
MIRT2038742	hsa-miR-548k	CLIP-seq
MIRT2038743	hsa-miR-665	CLIP-seq
MIRT1136174	hsa-miR-106a	CLIP-seq
MIRT1136175	hsa-miR-106b	CLIP-seq
MIRT1136176	hsa-miR-1264	CLIP-seq
MIRT1136178	hsa-miR-17	CLIP-seq
MIRT2268727	hsa-miR-205	CLIP-seq
MIRT1136179	hsa-miR-20a	CLIP-seq
MIRT1136180	hsa-miR-20b	CLIP-seq
MIRT1136182	hsa-miR-216a	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT1136186	hsa-miR-3671	CLIP-seq
MIRT1136189	hsa-miR-4264	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT1136191	hsa-miR-4762-5p	CLIP-seq
MIRT1136192	hsa-miR-4796-3p	CLIP-seq
MIRT1136193	hsa-miR-4797-3p	CLIP-seq
MIRT1136196	hsa-miR-519d	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT1136198	hsa-miR-607	CLIP-seq
MIRT1136199	hsa-miR-616	CLIP-seq
MIRT1136200	hsa-miR-622	CLIP-seq
MIRT1136202	hsa-miR-93	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT1136174	hsa-miR-106a	CLIP-seq
MIRT1136175	hsa-miR-106b	CLIP-seq
MIRT2568072	hsa-miR-1184	CLIP-seq
MIRT2568073	hsa-miR-1207-3p	CLIP-seq
MIRT2568074	hsa-miR-1226	CLIP-seq
MIRT2568075	hsa-miR-1243	CLIP-seq
MIRT1136176	hsa-miR-1264	CLIP-seq
MIRT2568076	hsa-miR-1291	CLIP-seq
MIRT2568077	hsa-miR-1301	CLIP-seq
MIRT2568078	hsa-miR-140-3p	CLIP-seq
MIRT1136178	hsa-miR-17	CLIP-seq
MIRT2568079	hsa-miR-188-5p	CLIP-seq
MIRT2568080	hsa-miR-204	CLIP-seq
MIRT1136179	hsa-miR-20a	CLIP-seq
MIRT1136180	hsa-miR-20b	CLIP-seq
MIRT2568081	hsa-miR-211	CLIP-seq
MIRT1136181	hsa-miR-2115	CLIP-seq
MIRT2568082	hsa-miR-296-3p	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT2568083	hsa-miR-3176	CLIP-seq
MIRT2568084	hsa-miR-326	CLIP-seq
MIRT2568085	hsa-miR-328	CLIP-seq
MIRT2568086	hsa-miR-330-5p	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT2038730	hsa-miR-3613-3p	CLIP-seq
MIRT2568087	hsa-miR-3614-3p	CLIP-seq
MIRT2568088	hsa-miR-3922-3p	CLIP-seq
MIRT1136188	hsa-miR-3977	CLIP-seq
MIRT2568089	hsa-miR-4261	CLIP-seq
MIRT2568090	hsa-miR-4284	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT2568091	hsa-miR-4453	CLIP-seq
MIRT2568092	hsa-miR-4493	CLIP-seq
MIRT2568093	hsa-miR-4538	CLIP-seq
MIRT2568094	hsa-miR-4638-5p	CLIP-seq
MIRT2568095	hsa-miR-4660	CLIP-seq
MIRT2568096	hsa-miR-4738-3p	CLIP-seq
MIRT2568097	hsa-miR-4738-5p	CLIP-seq
MIRT1136192	hsa-miR-4796-3p	CLIP-seq
MIRT2568098	hsa-miR-495	CLIP-seq
MIRT2568099	hsa-miR-5047	CLIP-seq
MIRT1136195	hsa-miR-516a-3p	CLIP-seq
MIRT1136196	hsa-miR-519d	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT2568100	hsa-miR-875-3p	CLIP-seq
MIRT1136202	hsa-miR-93	CLIP-seq
MIRT1136174	hsa-miR-106a	CLIP-seq
MIRT1136175	hsa-miR-106b	CLIP-seq
MIRT2568072	hsa-miR-1184	CLIP-seq
MIRT2568073	hsa-miR-1207-3p	CLIP-seq
MIRT2568074	hsa-miR-1226	CLIP-seq
MIRT2568075	hsa-miR-1243	CLIP-seq
MIRT1136176	hsa-miR-1264	CLIP-seq
MIRT2568076	hsa-miR-1291	CLIP-seq
MIRT2568077	hsa-miR-1301	CLIP-seq
MIRT2568078	hsa-miR-140-3p	CLIP-seq
MIRT1136178	hsa-miR-17	CLIP-seq
MIRT2568079	hsa-miR-188-5p	CLIP-seq
MIRT2568080	hsa-miR-204	CLIP-seq
MIRT1136179	hsa-miR-20a	CLIP-seq
MIRT1136180	hsa-miR-20b	CLIP-seq
MIRT2568081	hsa-miR-211	CLIP-seq
MIRT1136181	hsa-miR-2115	CLIP-seq
MIRT1136183	hsa-miR-3164	CLIP-seq
MIRT2568083	hsa-miR-3176	CLIP-seq
MIRT2568084	hsa-miR-326	CLIP-seq
MIRT2568085	hsa-miR-328	CLIP-seq
MIRT2568086	hsa-miR-330-5p	CLIP-seq
MIRT1136184	hsa-miR-3609	CLIP-seq
MIRT2038730	hsa-miR-3613-3p	CLIP-seq
MIRT2568087	hsa-miR-3614-3p	CLIP-seq
MIRT2568088	hsa-miR-3922-3p	CLIP-seq
MIRT1136188	hsa-miR-3977	CLIP-seq
MIRT2568089	hsa-miR-4261	CLIP-seq
MIRT2568090	hsa-miR-4284	CLIP-seq
MIRT1136190	hsa-miR-4446-5p	CLIP-seq
MIRT2568091	hsa-miR-4453	CLIP-seq
MIRT2568092	hsa-miR-4493	CLIP-seq
MIRT2568093	hsa-miR-4538	CLIP-seq
MIRT2568094	hsa-miR-4638-5p	CLIP-seq
MIRT2568095	hsa-miR-4660	CLIP-seq
MIRT2568096	hsa-miR-4738-3p	CLIP-seq
MIRT2568097	hsa-miR-4738-5p	CLIP-seq
MIRT1136192	hsa-miR-4796-3p	CLIP-seq
MIRT2568098	hsa-miR-495	CLIP-seq
MIRT2568099	hsa-miR-5047	CLIP-seq
MIRT1136195	hsa-miR-516a-3p	CLIP-seq
MIRT1136196	hsa-miR-519d	CLIP-seq
MIRT1136197	hsa-miR-548ah	CLIP-seq
MIRT2568100	hsa-miR-875-3p	CLIP-seq
MIRT1136202	hsa-miR-93	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	EXP	9990022
GO:0000139	Component	Golgi membrane	IDA	9990022
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	EXP	11163209
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	21719679, 34349020
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IMP	21719679
GO:0004252	Function	Serine-type endopeptidase activity	TAS	9809072
GO:0005515	Function	Protein binding	IPI	34349020
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS	9809072
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	21719679
GO:0006508	Process	Proteolysis	TAS	9809072
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006607	Process	NLS-bearing protein import into nucleus	IDA	14645851
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007040	Process	Lysosome organization	IMP	21719679
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IDA	34349020
GO:0016787	Function	Hydrolase activity	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IEA
GO:0031293	Process	Membrane protein intracellular domain proteolysis	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0036500	Process	ATF6-mediated unfolded protein response	TAS	22934019
GO:0045540	Process	Regulation of cholesterol biosynthetic process	TAS
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IDA	12177166
GO:0051604	Process	Protein maturation	IDA	21719679
GO:0051604	Process	Protein maturation	IMP	21719679
GO:0060627	Process	Regulation of vesicle-mediated transport	IMP	30046013

MIM	HGNC	e!Ensembl
603355	15456	ENSG00000140943

Q14703

Protein name

Membrane-bound transcription factor site-1 protease (EC 3.4.21.112) (Endopeptidase S1P) (Subtilisin/kexin-isozyme 1) (SKI-1)

Protein function

Serine protease that cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4: known substrates include SREBF1/SREBP1, SREBF2/SREBP2, BDNF, GNPTAB, ATF6, ATF6B and FAM20C (PubMed:10644685, PubMed:12782636, PubMed:2

PDB

8UW8 , 8UWC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00082	Peptidase_S8	209 → 464	Subtilase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10944850}.

Sequence

MKLVNIWLLLLVVLLCGKKHLGDRLEKKSFEKAPCPGCSHLTLKVEFSSTVVEYEYIVAF
NGYFTAKARNSFISSALKSSEVDNWRIIPRNNPSSDYPSDFEVIQIKEKQKAGLLTLEDH
PNIKRVTPQRKVFRSLKYAESDPTVPCNETRWSQKWQSSRPLRRASLSLGSGFWHATGRH
SSRRLLRAIPRQVAQTLQADVLWQMGYTGANVRVAVFDTGLSEKHPHFKNVKERTNWTNE
RTLDDGLGHGTFVAGVIASMRECQGFAPDAELHIFRVFTNNQVSYTSWFLDAFNYAILKK
IDVLNLSIGGPDFMDHPFVDKVWELTANNVIMVSAIGNDGPLYGTLNNPADQMDVIGVGG
IDFEDNIARFSSRGMTTWELPGGYGRMKPDIVTYGAGVRGSGVKGGCRALSGTSVASPVV
AGAVTLLVSTVQKRELVNPASMKQALIASARRLPGVNMFEQGHGKLDLLRAYQILNSYKP
QASLSPSYIDLTECPYMWPYCSQPIYYGGMPTVVNVTILNGMGVTGRIVDKPDWQPYLPQ
NGDNIEVAFSYSSVLWPWSGYLAISISVTKKAASWEGIAQGHVMITVASPAETESKNGAE
QTSTVKLPIKVKIIPTPPRSKRVLWDQYHNLRYPPGYFPRDNLRMKNDPLDWNGDHIHTN
FRDMYQHLRSMGYFVEVLGAPFTCFDASQYGTLLMVDSEEEYFPEEIAKLRRDVDNGLSL
VIFSDWYNTSVMRKVKFYDENTRQWWMPDTGGANIPALNELLSVWNMGFSDGLYEGEFTL
ANHDMYYASGCSIAKFPEDGVVITQTFKDQGLEVLKQETAVVENVPILGLYQIPAEGGGR
IVLYGDSNCLDDSHRQKDCFWLLDALLQYTSYGVTPPSLSHSGNRQRPPSGAGSVTPERM
EGNHLHRYSKVLEAHLGDPKPRPLPACPRLSWAKPQPLNETAPSNLWKHQKLLSIDLDKV
VLPNFRSNRPQVRPLSPGESGAWDIPGGIMPGRYNQEVGQTIPVFAFLGAMVVLAFFVVQ
INKAKSRPKRRKPRVKRPQLMQQVHPPKTPSV

Sequence length

1052

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) CREB3 factors activate genes Post-translational protein phosphorylation

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spondyloepiphyseal dysplasia, kondo-fu type	Pathogenic; Likely pathogenic	rs2151136903, rs2151160106, rs967208601, rs1223135985, rs771258750, rs1226321681, rs2085516391, rs1273822522, rs2086110956	RCV001838827 RCV001838828 RCV003333899 RCV003990951 RCV000767392 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MBTPS1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (119)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22344462, 24064218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	21284674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	24456642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	37439373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	24837436, 29401601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21889147, 23640484, 29511860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16508940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21889147, 23640484, 29511860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18322542, 21901448, 27890706, 28241498, 30300318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	30018456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30712233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31165772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20110355, 29186783, 29385066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36068200	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30712233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18645009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34285190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29088837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18472021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27605019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23789924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23033271, 26282174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21945191, 26485657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	19158154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29223361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25117815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	32420688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	32998767	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	31357710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	27574180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30336275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30666658, 31648327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29689241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21333981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32420688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	29266713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	22241994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	21145832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	35999321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15867375, 24903384, 28645614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15867375, 28645614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19810093, 26002572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	31237525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27785703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	37439373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28082452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23884247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28822836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22940715, 28279838, 28283249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	31357710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	28709768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	18322542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26045781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	21355074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	14563831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23409034	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27890706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27890706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27890706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27890706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30018456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	27389057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	22265714, 28082452, 28695300, 30116000, 31742704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20110355, 29186783, 29385066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29088837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20979115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16183075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16753042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18472021, 24679343, 26209696, 27061580, 27573555, 28302566, 28695300, 29186783, 29223361, 29385066, 30712233, 31379883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29223361		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23884247, 30482853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	31070020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27697999, 27785703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17561264, 19814729, 20648639, 21339486, 24679343, 27519689, 27823573, 27890706, 28279838, 28620801, 29138536, 29314605, 29785244, 30138818, 30300318 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	24728591, 27631876, 31313064, 31385341, 31562628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	29205338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23884247, 27160553, 28302566, 30712233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	18922980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28236593, 30040082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28011404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	30046013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	32420688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29088837		★★★★★ ★☆☆☆☆ Found in Text Mining only
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	31314788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31070020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20979115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22540830	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	26174087, 27890706, 29174115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	31547113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	30116000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23315259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29631354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29392309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30148701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27922551, 28846923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	30046013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	31373726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	22241994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16183075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31391037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	27605019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30679645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	28364200, 28492873, 30452592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16753042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	16753042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	16753042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	30712233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26857281	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	28693924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29556726, 30872391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	19157443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MBTPS1 (membrane bound transcription factor peptidase, site 1)