CTSK (cathepsin K)

Gene

• Entrez ID: 1513
• Gene name: Cathepsin K
• Gene symbol: CTSK
• Synonyms (NCBI Gene): CTS02, CTSO, CTSO1, CTSO2, PKND, PYCD
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs29001685	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs74315301	T>C	Pathogenic	Terminator codon variant, stop lost
rs74315302	C>G	Pathogenic	Missense variant, coding sequence variant
rs74315303	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs74315304	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs74315305	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315306	T>A	Pathogenic	Stop gained, coding sequence variant
rs75481239	A>C,T	Likely-pathogenic	Splice donor variant
rs142097792	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs202040269	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs371277428	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs375958814	G>A,C,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, stop gained
rs758450569	->TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs762780994	C>T	Pathogenic	Coding sequence variant, missense variant
rs773943327	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs778368118	C>A,T	Likely-pathogenic	Initiator codon variant, missense variant
rs780202604	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs781168584	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs868112062	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1057516514	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516587	T>C	Likely-pathogenic	Splice acceptor variant
rs1057516627	TCCAGGGCACCCACAGAGCTAAAAGCCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516725	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516790	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516839	A>-	Likely-pathogenic	Splice donor variant
rs1057516891	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517252	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517263	C>T	Likely-pathogenic	Splice donor variant
rs1057517279	C>A,T	Likely-pathogenic	Splice donor variant
rs1553196764	->GCTGTAAGACCAATCAAGAAAAA	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1553196900	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553196906	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553196934	C>T	Likely-pathogenic	Splice donor variant
rs1553196945	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553197230	C>T	Likely-pathogenic	Splice donor variant
rs1553197239	GG>C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553197262	C>G	Likely-pathogenic	Splice acceptor variant
rs1557823855	C>A	Pathogenic	Splice acceptor variant
rs1571122183	C>T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs1571123333	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038461	hsa-miR-296-3p	CLASH	23622248
MIRT915948	hsa-miR-23a	CLIP-seq
MIRT915949	hsa-miR-23b	CLIP-seq
MIRT915950	hsa-miR-23c	CLIP-seq
MIRT915951	hsa-miR-3154	CLIP-seq
MIRT915952	hsa-miR-7	CLIP-seq
MIRT2510478	hsa-miR-127-5p	CLIP-seq
MIRT2510479	hsa-miR-128	CLIP-seq
MIRT2510480	hsa-miR-1293	CLIP-seq
MIRT2510481	hsa-miR-185	CLIP-seq
MIRT2510482	hsa-miR-197	CLIP-seq
MIRT2510483	hsa-miR-2110	CLIP-seq
MIRT2510484	hsa-miR-216a	CLIP-seq
MIRT2510485	hsa-miR-3153	CLIP-seq
MIRT2510486	hsa-miR-3613-3p	CLIP-seq
MIRT2510487	hsa-miR-3973	CLIP-seq
MIRT2510488	hsa-miR-3974	CLIP-seq
MIRT2510489	hsa-miR-3977	CLIP-seq
MIRT2510490	hsa-miR-4264	CLIP-seq
MIRT2510491	hsa-miR-4270	CLIP-seq
MIRT2510492	hsa-miR-4271	CLIP-seq
MIRT2510493	hsa-miR-4306	CLIP-seq
MIRT2510494	hsa-miR-4441	CLIP-seq
MIRT2510495	hsa-miR-4476	CLIP-seq
MIRT2510496	hsa-miR-4483	CLIP-seq
MIRT2510497	hsa-miR-4533	CLIP-seq
MIRT2510498	hsa-miR-4644	CLIP-seq
MIRT2510499	hsa-miR-4672	CLIP-seq
MIRT2510500	hsa-miR-4686	CLIP-seq
MIRT2510501	hsa-miR-4688	CLIP-seq
MIRT2510502	hsa-miR-4701-5p	CLIP-seq
MIRT2510503	hsa-miR-4724-5p	CLIP-seq
MIRT2510504	hsa-miR-4725-3p	CLIP-seq
MIRT2510505	hsa-miR-4738-3p	CLIP-seq
MIRT2510506	hsa-miR-4797-3p	CLIP-seq
MIRT2510507	hsa-miR-486-3p	CLIP-seq
MIRT2510508	hsa-miR-579	CLIP-seq
MIRT2510509	hsa-miR-588	CLIP-seq
MIRT2678792	hsa-miR-106a	CLIP-seq
MIRT2678793	hsa-miR-106b	CLIP-seq
MIRT2510478	hsa-miR-127-5p	CLIP-seq
MIRT2510479	hsa-miR-128	CLIP-seq
MIRT2510480	hsa-miR-1293	CLIP-seq
MIRT2678794	hsa-miR-17	CLIP-seq
MIRT2510481	hsa-miR-185	CLIP-seq
MIRT2510482	hsa-miR-197	CLIP-seq
MIRT2678795	hsa-miR-20a	CLIP-seq
MIRT2678796	hsa-miR-20b	CLIP-seq
MIRT2510483	hsa-miR-2110	CLIP-seq
MIRT2510484	hsa-miR-216a	CLIP-seq
MIRT2510485	hsa-miR-3153	CLIP-seq
MIRT2510486	hsa-miR-3613-3p	CLIP-seq
MIRT2510487	hsa-miR-3973	CLIP-seq
MIRT2510488	hsa-miR-3974	CLIP-seq
MIRT2510489	hsa-miR-3977	CLIP-seq
MIRT2510490	hsa-miR-4264	CLIP-seq
MIRT2510491	hsa-miR-4270	CLIP-seq
MIRT2510492	hsa-miR-4271	CLIP-seq
MIRT2678797	hsa-miR-4287	CLIP-seq
MIRT2510493	hsa-miR-4306	CLIP-seq
MIRT2510494	hsa-miR-4441	CLIP-seq
MIRT2510495	hsa-miR-4476	CLIP-seq
MIRT2510496	hsa-miR-4483	CLIP-seq
MIRT2510497	hsa-miR-4533	CLIP-seq
MIRT2510498	hsa-miR-4644	CLIP-seq
MIRT2510499	hsa-miR-4672	CLIP-seq
MIRT2678798	hsa-miR-4685-3p	CLIP-seq
MIRT2510500	hsa-miR-4686	CLIP-seq
MIRT2510501	hsa-miR-4688	CLIP-seq
MIRT2510502	hsa-miR-4701-5p	CLIP-seq
MIRT2510503	hsa-miR-4724-5p	CLIP-seq
MIRT2510504	hsa-miR-4725-3p	CLIP-seq
MIRT2510505	hsa-miR-4738-3p	CLIP-seq
MIRT2510506	hsa-miR-4797-3p	CLIP-seq
MIRT2510507	hsa-miR-486-3p	CLIP-seq
MIRT2678799	hsa-miR-519a	CLIP-seq
MIRT2678800	hsa-miR-519b-3p	CLIP-seq
MIRT2678801	hsa-miR-519c-3p	CLIP-seq
MIRT2678802	hsa-miR-519d	CLIP-seq
MIRT2678803	hsa-miR-520g	CLIP-seq
MIRT2678804	hsa-miR-520h	CLIP-seq
MIRT2510508	hsa-miR-579	CLIP-seq
MIRT2510509	hsa-miR-588	CLIP-seq
MIRT2678805	hsa-miR-93	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Activation	21602817
SPI1	Unknown	15304486

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000423	Process	Mitophagy	HMP	24912190
GO:0001968	Function	Fibronectin binding	IEA
GO:0001968	Function	Fibronectin binding	IPI	22952693
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	22952693
GO:0004197	Function	Cysteine-type endopeptidase activity	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9143502
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	12504904, 15752368
GO:0005518	Function	Collagen binding	IDA	22952693
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	11082042, 22952693
GO:0005615	Component	Extracellular space	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	11082042, 22365146
GO:0005764	Component	Lysosome	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	7818555
GO:0006590	Process	Thyroid hormone generation	IDA	11082042
GO:0006590	Process	Thyroid hormone generation	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IDA	15752368, 19834056
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	TAS	7818555
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0022617	Process	Extracellular matrix disassembly	IEA
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030574	Process	Collagen catabolic process	IDA	19834056
GO:0030574	Process	Collagen catabolic process	IDA	22952693
GO:0030574	Process	Collagen catabolic process	IEA
GO:0030574	Process	Collagen catabolic process	IEA
GO:0036021	Component	Endolysosome lumen	IEA
GO:0036021	Component	Endolysosome lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043394	Function	Proteoglycan binding	IEA
GO:0043394	Function	Proteoglycan binding	IPI	22952693
GO:0045453	Process	Bone resorption	IEA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IBA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IDA	11082042, 22952693
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0061037	Process	Negative regulation of cartilage development	IEA

Other IDs

• MIM: 601105
• HGNC: 2536
• e!Ensembl: ENSG00000143387

Protein

• UniProt ID: P43235
• Protein name: Cathepsin K (EC 3.4.22.38) (Cathepsin O) (Cathepsin O2) (Cathepsin X)
• Protein function: Thiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix deg
• PDB: 1ATK, 1AU0, 1AU2, 1AU3, 1AU4, 1AYU, 1AYV, 1AYW, 1BGO, 1BY8, 1MEM, 1NL6, 1NLJ, 1Q6K, 1SNK, 1TU6, 1U9V, 1U9W, 1U9X, 1VSN, 1YK7, 1YK8, 1YT7, 2ATO, 2AUX, 2AUZ, 2BDL, 2R6N, 3C9E, 3H7D, 3KW9, 3KWB, 3KWZ, 3KX1, 3O0U, 3O1G, 3OVZ, 4DMX, 4DMY, 4N79, 4N8W, 4X6H, 4X6I, 4X6J, 4YV8, 4YVA, 5J94, 5JA7, 5JH3, 5TDI, 5TUN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08246	Inhibitor_I29	26 → 86	Cathepsin propeptide inhibitor domain (I29)	Domain
  PF00112	Peptidase_C1	115 → 328	Papain family cysteine protease	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in osteoclasts (bones) (PubMed:7805878). Expressed in thyroid epithelial cells (PubMed:11082042). {ECO:0000269|PubMed:11082042, ECO:0000269|PubMed:7805878}.
• Sequence:

  MWGLKVLLLPVVSFALYPEEILDTHWELWKKTHRKQYNNKVDEISRRLIWEKNLKYISIH
  NLEASLGVHTYELAMNHLGDMTSEEVVQKMTGLKVPLSHSRSNDTLYIPEWEGRAPDSVD
  YRKKGYVTPVKNQGQCGSCWAFSSVGALEGQLKKKTGKLLNLSPQNLVDCVSENDGCGGG
  YMTNAFQYVQKNRGIDSEDAYPYVGQEESCMYNPTGKAAKCRGYREIPEGNEKALKRAVA
  RVGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNHAVLAVGYGIQKGNKHWIIKNSWGE
  NWGNKGYILMARNKNNACGIANLASFPKM

• Sequence length: 329

Pathways

KEGG:

Lysosome
Apoptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
Rheumatoid arthritis

Reactome:

Collagen degradation
Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases
Trafficking and processing of endosomal TLR
MHC class II antigen presentation
RUNX1 regulates transcription of genes involved in differentiation of keratinocytes

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
Abnormality of the skeletal system	Likely pathogenic; Pathogenic	rs762780994	RCV001814239	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyknodysostosis	Pathogenic; Likely pathogenic	rs1654043546, rs2101951671, rs759107967, rs760640027, rs199919553, rs2101953129, rs1057517279, rs2101953595, rs2101951545, rs1237746431, rs2101954034, rs2525178790, rs2525180438, rs2525166561, rs1225660627, rs2525173940, rs199555702, rs587775407, rs2525178672, rs2525178470, rs2525166556, rs2525174048, rs2525178878, rs2525166522, rs1654079662, rs756250449, rs750699844, rs1653935181, rs74315301, rs74315302, rs74315303, rs74315304, rs74315305, rs74315306, rs29001685, rs2525180527, rs2525166455, rs2525178648, rs2525173651, rs2525178332, rs2525161846, rs2525173663, rs2525180406, rs2525180734, rs2525178794, rs768992778, rs1654101631, rs2525166892, rs375958814, rs758450569, rs1057516891, rs202040269, rs1057516627, rs1057516514, rs1057516839, rs1057516725, rs773943327, rs1057517263, rs780202604, rs1057516587, rs1057516790, rs1057517252, rs778368118, rs1553196906, rs1553196900, rs371277428, rs1553197239, rs1553197262, rs1553196934, rs1553197230, rs1553196764, rs1553196945, rs1557823855, rs75481239, rs762780994, rs1571122183, rs1571123333, rs587663163, rs764168526, rs1654042476, rs2101951608, rs2101951483, rs2101946013, rs2101951641, rs2101951682, rs1654085401, rs1654102585, rs2101947647	RCV005635146 RCV003469773 RCV003469777 RCV003469727 RCV001733850 RCV001805755 RCV001806411 RCV001806414 RCV004770271 RCV003471120 RCV002249851 RCV002306743 RCV002309588 RCV002309800 RCV002310009 RCV002307898 RCV002308046 RCV002308056 RCV002309173 RCV002309321 RCV002309333 RCV002306978 RCV002307227 RCV002310146 RCV002310357 RCV005239706 RCV003465997 RCV003465818 RCV000008931 RCV000008932 RCV000008933 RCV000008934 RCV000008935 RCV000008936 RCV000008937 RCV003468563 RCV003468564 RCV003468565 RCV003468566 RCV003468567 RCV003468568 RCV003468569 RCV003468570 RCV003468571 RCV003485990 RCV004575713 RCV004575714 RCV004575715 RCV000410122 RCV000409981 RCV000409237 RCV000409568 RCV000409218 RCV000411707 RCV000409792 RCV000411145 RCV000412028 RCV000409177 RCV000408975 RCV000411767 RCV000410588 RCV000410647 RCV000412289 RCV000409305 RCV000412093 RCV000673008 RCV000666587 RCV000669037 RCV000666069 RCV000665773 RCV000666321 RCV000666473 RCV000666918 RCV000669917 RCV000664905 RCV000761474 RCV000761424 RCV001830739 RCV003467528 RCV000986407 RCV003467829 RCV001834056 RCV001374471 RCV001290358 RCV001374468 RCV001374469 RCV001374470 RCV001374472 RCV001374474 RCV001261622 RCV001261623 RCV001374738	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTSK-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL ENAMEL HYPOPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	Disgenet	★★☆☆☆ 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
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28837273		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15162377		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	21602817, 26975036		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	26330244		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	20203298, 21817099		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	17322367, 22804761, 23958260, 24833013	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	21817099, 26960947, 28087488		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17098827, 17420353, 17522380		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12379519, 18240253, 23543761, 30773420, 8703060		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	18975331	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10693863, 11920402, 35896699	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23483898		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17098827, 17420353, 17522380		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	10469835, 19338743, 21569238, 30199612		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	12568399, 18302508, 18678577, 25818344, 30199612, 36138018, 36696904, 8938428	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24269275	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	25731711		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	22614014		★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	12039963, 33670411, 35896699, 38139307, 39684735	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	16280328	Inhibit	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11746820, 25249554, 28463564, 28968398, 29916127, 31112710, 7929457		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18765527	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	12568399	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15162377, 19396149, 21602817, 28085175, 28117540		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	18765527	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16912171		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19396149, 20679884, 21602817, 22892601, 23355199, 24618616, 24696729, 27565001, 28415646, 29713041, 35980471, 37938323	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21146373	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30128029		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29303207		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22562303	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24719048, 26302400, 28821796		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	11920402, 18511517	Associate	★☆☆☆☆ Found in Text Mining only
Cherubism	Cherubism	BEFREE	12787044		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	11743044		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	10923921, 11223331		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	10923921		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	26302400		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25442015, 30850734		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30807603	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26302400, 29880809		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24618616, 26975036, 28949976		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	32667742	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29431119		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	24934367	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	27709599		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11920402, 17522380, 22380539, 23926636, 28128866, 29523155, 29743078, 29781506, 30664745		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	30664745		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28821796		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28821796		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	20357177		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	24767306		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29303207		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20430722	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	10961902		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	10961902	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	25356585		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	11223331, 7818555, 8585423, 8647859		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	15277232	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25356585, 28040478, 29297738, 30046941, 30367810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	25356585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	25356585, 28040478, 30046941, 30367810	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	25356585, 28040478, 29297738, 30046941, 30367810		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	25356585		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26320409		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30367810	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	22905158		★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	22905158	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	14753734, 24767306	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29880809		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18765527	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	19773754	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28034583		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	40443657	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	29083055		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	19396149		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	24228124, 30206412, 37938323	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28837273		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22905158, 23483898	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	23483898		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10849755		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28093526		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	28623674		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	29618339		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29618339	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19773754	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	30367810		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11746820, 25249554, 28463564, 28968398, 29916127, 31112710		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	23598965		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16912171		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29303207		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15162377, 23152410, 23326535, 31172267		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16025436, 22974233		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	23951042		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23152410, 23326535, 26320409, 26325675, 28904354, 31112710		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17728092, 18949742		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	29390266		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18368130		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18368130, 24696729	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27709599		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	22046029		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	19396149, 21602817		★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	BEFREE	28949976		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	31710883		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12125807		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	34922439	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	22664813	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30450725, 30465799		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	33005006	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10923921, 16912171, 17683065, 18053985, 20438411, 20679884, 21146373, 22614014, 23598965, 23826432, 23951042, 24452295, 26320409, 26458004, 26901495, 27709599, 28216213, 29618339, 30552521, 31172267, 31266364, 8585423		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	26241216	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28904354		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	19773754		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12652657, 18818416		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	11920402, 18511517, 26241216, 30664745	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28087412		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	30664745		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	11008738, 8986645		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	14753734, 35466658	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	15277232	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	37370094	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	11499867, 15070910, 16699068, 19007918, 28739641, 29262817, 29470611, 30439432, 30816596, 30867044, 30934850, 31112135, 9286755		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	15231021, 24269275	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	24269275, 29800693, 30867839		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	12039963, 12125807, 16699068, 17522380, 26320409, 26747728, 28651365, 28725907, 28739641, 29278432, 29443463, 29470611, 29693149, 29743078, 29781506, 30131193, 30656367, 30663085, 30818817, 31765770, 8703060, 8938428, 9286755		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	12039963, 21611976, 27859061, 8938428	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	17728092		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	28629344		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17683065		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	10491211, 14753734, 18302508	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	17206399		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	29303207		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30450037		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	29550006		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	28095448		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	26458004, 30636333, 31737959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	20871214, 28837273, 28899738, 29516164		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	18240253		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15162377, 23152410, 23326535, 26901495, 31172267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	15162377		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12568399		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12568399, 21804603, 38221616	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22614014		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	15161653		★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	BEFREE	10074491, 10469835, 10491211, 10571690, 10634420, 10878663, 11685426, 12039963, 12125807, 12874701, 15070910, 15163881, 17397052, 19215700, 19674475, 20305575, 20357177, 21099701, 21569238, 23506830, 24767306, 25304337, 25725806, 25731711, 26458004, 27558267, 28095448, 28328823, 28651365, 29390266, 29781506, 29796728, 30199612, 31489468, 8703060, 8938428, 8986645, 9529353		★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	CLINVAR_DG	10074491, 10571690, 10634420, 10878663, 11181082, 12874701, 15070910, 17206399, 17397052, 19674475, 21099701, 21217630, 21569238, 22822386, 23786531, 24269275, 24767306, 27092432, 8703060, 8938428, 9529353		★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	GENOMICS_ENGLAND_DG	10491211, 23175007, 27604308, 28328823		★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	UNIPROT_DG	10491211, 10878663, 22822386, 25731711, 8703060, 9529353		★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	CTD_human_DG	15163881		★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	ORPHANET_DG	21569238		★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21602817		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19396149, 21602817, 22892601, 23715164, 24618616, 26975036, 28949976		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10693863, 11920402, 29431119, 30636333, 31737959, 9286755		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	11733367		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	37198626	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	21602817, 23355199	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	16715494, 19428782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	19428782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senile Plaques	Senile Plaques	BEFREE	23621429		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	8986645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin carcinoma	Skin Carcinoma	BEFREE	23951042		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	11920402, 18240253		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	23543761		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	23951042	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	18678577	Associate	★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylolysis	Spondylolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21146373, 28117540, 29618339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23951042, 29618339, 37356748	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	23951042		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16025436, 22974233		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	30931961		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	23951042	Associate	★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	22046029		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	29083055		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	29058826		★☆☆☆☆ Found in Text Mining only