ST14 (ST14 transmembrane serine protease matriptase)

Gene

• Entrez ID: 6768
• Gene name: ST14 transmembrane serine protease matriptase
• Gene symbol: ST14
• Synonyms (NCBI Gene): ARCI11, CAP3, HAI, MT-SP1, MTSP1, PRSS14, SNC19, TADG15, TMPRSS14
• Chromosome: 11
• Chromosome location: 11q24.3
• Summary: The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852931	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137852932	G>A	Pathogenic	Initiator codon variant, missense variant
rs150984123	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs587777262	G>A	Pathogenic	Splice donor variant
rs587777263	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591892666	->G	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003388	hsa-miR-27b-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	19546220
MIRT003388	hsa-miR-27b-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	19546220
MIRT003388	hsa-miR-27b-3p	Review	20026422
MIRT017020	hsa-miR-335-5p	Microarray	18185580
MIRT039751	hsa-miR-615-3p	CLASH	23622248
MIRT1393193	hsa-miR-1908	CLIP-seq
MIRT1393194	hsa-miR-3192	CLIP-seq
MIRT1393195	hsa-miR-329	CLIP-seq
MIRT1393196	hsa-miR-3620	CLIP-seq
MIRT1393197	hsa-miR-362-3p	CLIP-seq
MIRT1393198	hsa-miR-3662	CLIP-seq
MIRT1393199	hsa-miR-3941	CLIP-seq
MIRT1393200	hsa-miR-4292	CLIP-seq
MIRT1393201	hsa-miR-4300	CLIP-seq
MIRT1393202	hsa-miR-4307	CLIP-seq
MIRT1393203	hsa-miR-466	CLIP-seq
MIRT1393204	hsa-miR-4672	CLIP-seq
MIRT1393205	hsa-miR-4711-3p	CLIP-seq
MIRT1393206	hsa-miR-4719	CLIP-seq
MIRT1393207	hsa-miR-4723-5p	CLIP-seq
MIRT1393208	hsa-miR-4729	CLIP-seq
MIRT1393209	hsa-miR-4731-3p	CLIP-seq
MIRT1393210	hsa-miR-4801	CLIP-seq
MIRT1393211	hsa-miR-485-5p	CLIP-seq
MIRT1393212	hsa-miR-603	CLIP-seq
MIRT1393213	hsa-miR-663	CLIP-seq
MIRT1393214	hsa-miR-920	CLIP-seq
MIRT2118062	hsa-miR-3180-5p	CLIP-seq
MIRT2118063	hsa-miR-4314	CLIP-seq
MIRT2118064	hsa-miR-4330	CLIP-seq
MIRT2118065	hsa-miR-4667-5p	CLIP-seq
MIRT2118066	hsa-miR-4685-5p	CLIP-seq
MIRT2118067	hsa-miR-4700-5p	CLIP-seq
MIRT2118068	hsa-miR-4758-3p	CLIP-seq
MIRT1393211	hsa-miR-485-5p	CLIP-seq
MIRT2118069	hsa-miR-523	CLIP-seq
MIRT2118070	hsa-miR-622	CLIP-seq
MIRT2118071	hsa-miR-637	CLIP-seq
MIRT2118072	hsa-miR-661	CLIP-seq
MIRT2339966	hsa-miR-1827	CLIP-seq
MIRT2339967	hsa-miR-199a-5p	CLIP-seq
MIRT2339968	hsa-miR-199b-5p	CLIP-seq
MIRT2339969	hsa-miR-335	CLIP-seq
MIRT2339970	hsa-miR-3612	CLIP-seq
MIRT2339971	hsa-miR-378g	CLIP-seq
MIRT2339972	hsa-miR-3915	CLIP-seq
MIRT2339973	hsa-miR-3928	CLIP-seq
MIRT2339974	hsa-miR-3929	CLIP-seq
MIRT2339975	hsa-miR-4419b	CLIP-seq
MIRT2339976	hsa-miR-4443	CLIP-seq
MIRT2339977	hsa-miR-4478	CLIP-seq
MIRT1393211	hsa-miR-485-5p	CLIP-seq
MIRT2339978	hsa-miR-501-3p	CLIP-seq
MIRT2339979	hsa-miR-502-3p	CLIP-seq
MIRT2339980	hsa-miR-516a-3p	CLIP-seq
MIRT2339981	hsa-miR-650	CLIP-seq
MIRT2118072	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10373424, 10831593
GO:0006508	Process	Proteolysis	IDA	19911255
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	10373424
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0008236	Function	Serine-type peptidase activity	IDA	19911255
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	10831593
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030216	Process	Keratinocyte differentiation	IBA
GO:0030216	Process	Keratinocyte differentiation	IMP	18843291
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0060672	Process	Epithelial cell morphogenesis involved in placental branching	IEA

Other IDs

• MIM: 606797
• HGNC: 11344
• e!Ensembl: ENSG00000149418

Protein

• UniProt ID: Q9Y5Y6
• Protein name: Suppressor of tumorigenicity 14 protein (EC 3.4.21.109) (Matriptase) (Membrane-type serine protease 1) (MT-SP1) (Prostamin) (Serine protease 14) (Serine protease TADG-15) (Tumor-associated differentially-expressed gene 15 protein)
• Protein function: Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site (PubMed:10373424). Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) pr
• PDB: 1EAW, 1EAX, 2GV6, 2GV7, 3BN9, 3NCL, 3NPS, 3P8F, 3P8G, 3SO3, 4IS5, 4ISL, 4ISN, 4ISO, 4JYT, 4JZ1, 4JZI, 4O97, 4O9V, 4R0I, 5LYO, 6N4T, 6T9T, 8G1V, 8G1W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01390	SEA	88 → 177	SEA domain	Family
  PF00431	CUB	223 → 331	CUB domain	Domain
  PF00431	CUB	340 → 444	CUB domain	Domain
  PF00057	Ldl_recept_a	451 → 486	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	487 → 523	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	524 → 559	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	565 → 602	Low-density lipoprotein receptor domain class A	Repeat
  PF00089	Trypsin	615 → 849	Trypsin	Domain

• Sequence:

  MGSDRARKGGGGPKDFGAGLKYNSRHEKVNGLEEGVEFLPVNNVKKVEKHGPGRWVVLAA
  VLIGLLLVLLGIGFLVWHLQYRDVRVQKVFNGYMRITNENFVDAYENSNSTEFVSLASKV
  KDALKLLYSGVPFLGPYHKESAVTAFSEGSVIAYYWSEFSIPQHLVEEAERVMAEERVVM
  LPPRARSLKSFVVTSVVAFPTDSKTVQRTQDNSCSFGLHARGVELMRFTTPGFPDSPYPA
  HARCQWALRGDADSVLSLTFRSFDLASCDERGSDLVTVYNTLSPMEPHALVQLCGTYPPS
  YNLTFHSSQNVLLITLITNTERRHPGFEATFFQLPRMSSCGGRLRKAQGTFNSPYYPGHY
  PPNIDCTWNIEVPNNQHVKVRFKFFYLLEPGVPAGTCPKDYVEINGEKYCGERSQFVVTS
  NSNKITVRFHSDQSYTDTGFLAEYLSYDSSDPCPGQFTCRTGRCIRKELRCDGWADCTDH
  SDELNCSCDAGHQFTCKNKFCKPLFWVCDSVNDCGDNSDEQGCSCPAQTFRCSNGKCLSK
  SQQCNGKDDCGDGSDEASCPKVNVVTCTKHTYRCLNGLCLSKGNPECDGKEDCSDGSDEK
  DCDCGLRSFTRQARVVGGTDADEGEWPWQVSLHALGQGHICGASLISPNWLVSAAHCYID
  DRGFRYSDPTQWTAFLGLHDQSQRSAPGVQERRLKRIISHPFFNDFTFDYDIALLELEKP
  AEYSSMVRPICLPDASHVFPAGKAIWVTGWGHTQYGGTGALILQKGEIRVINQTTCENLL
  PQQITPRMMCVGFLSGGVDSCQGDSGGPLSSVEADGRIFQAGVVSWGDGCAQRNKPGVYT
  RLPLFRDWIKENTGV

• Sequence length: 855

Pathways

KEGG:

MicroRNAs in cancer

Reactome:

Formation of the cornified envelope

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
Autosomal recessive congenital ichthyosis 11	Likely pathogenic; Pathogenic	rs2136211819, rs587777262, rs587777263, rs137852931, rs137852932, rs1953368935	RCV001783816 RCV000114359 RCV000114360 RCV000004253 RCV000004254 RCV001257918	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis	Likely pathogenic	rs587777262	RCV004798778	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ICHTHYOSIS WITH HYPOTRICHOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ST14-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	14584072, 15471558		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18274158		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	22139080		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	18338334		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	2883927, 3119941		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	2986139	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30863319		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17255532		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17255532		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29095880		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24551030		★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	30729623		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11562767, 12675519, 14734471, 15832373, 16557597, 20716618, 21678412, 25873032, 27167193, 29899836, 31426843		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16407223, 19546220, 27167193, 34418985	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10500122, 14584072		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15832373, 20980099		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	14584072	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11948120, 19148468, 27356668		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	14584072		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30729623		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis	Cirrhosis	BEFREE	17897910		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	22081509, 22139080		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12675519		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11780337		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16237759, 16820046		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16237759, 16820046	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	17940283, 18843291, 29208051		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	17940283, 18843291, 29208051		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14713848, 25186085		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19156209		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22081509, 28490634		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	22582115		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	1822801		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20506309, 28464560, 29125730		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30589402		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	3009302		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	19443387, 29560101		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	19443387		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	11948120		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	16103220		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24935567		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	15834927, 25952099		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	1673303, 3006023		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	LHGDN	16273651		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	12560427		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29953855		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29449895, 29953855		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20601429		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	10944851, 1358771, 15307098, 1973342, 2564325, 2877941, 2885943, 2900870, 2983207, 3127923, 3502701, 9311183		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	15307098, 16628729, 2986139, 8261733, 9092680, 9504646	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	8423707, 9092680		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	2877941		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	15834927		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	BEFREE	29208051		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	LHGDN	17273967, 17978729, 18263585		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	17273967, 18843291, 29208051, 30982314	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	17940283, 18843291, 29208051		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	LHGDN	17273967, 17978729, 18263585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	BEFREE	17940283, 18843291, 23900022, 29208051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	18843291, 29208051, 30982314	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis linearis circumflexa	Netherton syndrome	CTD_human_DG	20657595		★☆☆☆☆ Found in Text Mining only
Ichthyosis with hypotrichosis, autosomal recessive	Ichthyosis with hypotrichosis	ORPHANET_DG	17273967		★☆☆☆☆ Found in Text Mining only
Ichthyosis with hypotrichosis, autosomal recessive	Ichthyosis with hypotrichosis	CTD_human_DG	17273967, 18445049		★☆☆☆☆ Found in Text Mining only
Ichthyosis with hypotrichosis, autosomal recessive	Ichthyosis with hypotrichosis	UNIPROT_DG	17273967, 18843291		★☆☆☆☆ Found in Text Mining only
Ichthyosis with hypotrichosis, autosomal recessive	Ichthyosis with hypotrichosis	BEFREE	17940283, 18263585, 18445049, 23900022, 29611532		★☆☆☆☆ Found in Text Mining only
Ichthyosis with hypotrichosis, autosomal recessive	Ichthyosis with hypotrichosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis with hypotrichosis, autosomal recessive	Ichthyosis with hypotrichosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis-hypotrichosis syndrome	Ichthyosis-Hypotrichosis Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29518524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22081509, 28490634		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	27528224		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	2737668		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	2986139	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	31740622		★☆☆☆☆ Found in Text Mining only
Intestinal epithelial dysplasia	Intestinal Epithelial Dysplasia	BEFREE	31628112		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28490634		★☆☆☆☆ Found in Text Mining only
Juvenile hemochromatosis	Hemochromatosis	BEFREE	25588876		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30589402		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	16407223	Associate	★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	17273967	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22088470		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17897910		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12560427		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20980099	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	35964051	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11780337		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	31024856		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	15136399		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11290548, 11562767, 12675519, 14734471, 16557597, 20716618, 21678412, 25873032, 27167193, 29899836, 31426843		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	19443387, 29560101		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15832373, 20980099		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11948120, 19148468, 27356668		★☆☆☆☆ 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	18649735, 18649738, 20971737, 21098708, 22689130, 23466486, 24121274, 26018085, 28368394, 28691803, 29118397, 31152147		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11780337, 12815039, 16557597, 20652801, 20971737, 27167193, 27615543, 28454318, 29125730, 30571119, 30729623, 31024856		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12675519		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12498394, 17456594		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17456594, 20716618		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	31024856		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	2737668		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	15136399		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	2879931, 8445613	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	3600794		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	3600794		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	3600794		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11948120, 14584072, 17069593, 21217780, 22139080, 23466486, 25873032, 26018085, 26942570, 29449895, 29899836, 30530991, 30729623, 31426843, 31840729		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	3226453		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	BEFREE	3226453		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11948120, 19148468, 27356668		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15611789		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15611789	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	28454318		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18649735, 18649738, 20971737, 21098708, 22689130, 23466486, 24121274, 26018085, 28368394, 28691803, 29118397, 31152147		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15928670	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16353247, 17228523, 18649735, 18813126		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14713848, 25186085		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	16501837		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	12560427		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	17273967	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	2737668		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16103220, 17069593, 21217780, 27615543, 29545930		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17069593		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	11508667, 15834927, 24935567		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15832373		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16273651	Associate	★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	12560427		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	BEFREE	12560427		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29899836		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	12560427		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	14584072	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	BEFREE	3466853		★☆☆☆☆ Found in Text Mining only
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	8474107		★☆☆☆☆ Found in Text Mining only